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Gene: Lrp6 MGI:1298218

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

low density lipoprotein receptor-related protein 6

Synonyms:

ska26, skax26, ska^m26Jus, Cd

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lrp6 (3 diseases)
Human diseases predicted to be associated with Lrp6 (3597 diseases)

The table below shows human diseases associated to Lrp6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy...	OMIM:610947
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724

The table below shows human diseases predicted to be associated to Lrp6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hepatic s...	OMIM:615703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole...	OMIM:612526
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant di...	ORPHA:280356
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Cryptorchidism, Orofacial ...	ORPHA:85287
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone dystrophy, ...	ORPHA:363741
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Primary Basilar Invagination	Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck	ORPHA:2285
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy...	OMIM:610947
Coloboma Of Macula And Skeletal Anomalies	Genu valgum, Macular coloboma, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Coxa ...	OMIM:216800
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Osteoporosis	Osteoporosis	OMIM:166710
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc...	OMIM:300635
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia	OMIM:246650
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Spondylosis, Cervical	Spondylolysis, Spondylolisthesis, Osteoarthritis, Cervical spondylosis, Spina bifida occulta	OMIM:184300
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida	ORPHA:3169
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Retinal coloboma, Telecanthus, Median ...	OMIM:258865
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Microphthalmia, Isolated 8	Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthal...	OMIM:615113
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Bresek Syndrome	Low-set ears, Alopecia, Plagiocephaly, Growth delay, Hearing impairment, Intrauterine growth reta...	ORPHA:85284
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Abnormal form of the vertebral bodies, A...	ORPHA:2180
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ...	OMIM:244300
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate	OMIM:223200
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif...	ORPHA:64754
Facial Clefting, Oblique, 1	Cleft upper lip, Talipes calcaneovalgus, Tessier number 4 facial cleft, Deep palmar crease, Colob...	OMIM:600251
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Al Kaissi Syndrome	High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Low-set ears, Lo...	OMIM:617694
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased acid sphin...	OMIM:607616
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ...	ORPHA:163665
Rotor Syndrome	Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,...	ORPHA:3111
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Growth delay, Branchial cyst, Long philtrum, Retrognathia, An...	OMIM:615583
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ...	ORPHA:2777
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ...	OMIM:200990
Galactosialidosis	Abnormal vertebral morphology, Abnormality of the vertebral column	ORPHA:351
Anophthalmia Plus Syndrome	Tessier cleft, Deviation of finger, Anophthalmia, Eyelid coloboma, Bilateral cleft palate, Spina ...	ORPHA:1104
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertrigl...	OMIM:603552
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Iniencephaly	Rhizomelia, Spinal dysraphism, Rocker bottom foot, Absent vertebra, Myelomeningocele, Encephaloce...	ORPHA:63259
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Mmep Syndrome	Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Spl...	ORPHA:3434
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan...	OMIM:608600
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Pyle Disease	Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of...	OMIM:265900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Plagiocephaly, Elbow dislocation, Abnormal form of the verteb...	ORPHA:2916
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,...	ORPHA:79085
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac...	OMIM:615238
Microphthalmia, Syndromic 8	Short palpebral fissure, Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft, Blepharoph...	OMIM:601349
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Trichodentoosseous Syndrome	Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Dolichocephaly, Increase...	OMIM:190320
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Sirenomelia, Abnormal intestine morphology, Epi...	ORPHA:1848
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Scoliosis, Plagiocephaly, Hearing impairment, Long philtrum, Thoracic hemivertebrae, Frontal boss...	OMIM:619721
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Joubert Syndrome 15	Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Ambiguous genitalia, Micropenis, Retina...	OMIM:614464
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Narrow mouth, High palate, Short nose, Downturned corners of mouth, Delayed skeletal m...	ORPHA:1327
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Frontonasal Dysplasia 1	Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger...	OMIM:136760
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus e...	ORPHA:64755
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Acalvaria	Talipes, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polyda...	ORPHA:945
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Hypoplastic fingernail, Delayed cranial suture...	OMIM:113000
Microphthalmia/Coloboma 4	Coloboma, Orbital cyst, Microphthalmia	OMIM:251505
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Slender long bone, Sacrococcygeal pilonidal abnormality, Hypoplasti...	ORPHA:2840
Bardet-Biedl Syndrome 5	Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Rod-cone dystrophy, Macula...	OMIM:615983
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Anterior encephalocele, Bilateral clef...	OMIM:601357
Microphthalmia, Isolated 4	Postaxial polydactyly, Absent testis, Coloboma, Microphthalmia	OMIM:613094
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo...	OMIM:614701
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Blepharophimosis, ...	OMIM:206920
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa...	ORPHA:890
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Joint hypermobility, Sprengel anomaly, Abnorma...	ORPHA:2475
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos...	OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert...	OMIM:613686
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Retinal coloboma, Horiz...	OMIM:618571
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 t...	DECIPHER:46
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Talipes equinovarus, Spi...	OMIM:211960
Non-Distal Duplication 10Q	Depressed nasal bridge, Frontal bossing, Low-set, posteriorly rotated ears, Micrognathia, Joint h...	ORPHA:1695
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morphology, Epiphyseal stippling, Ab...	ORPHA:177
Biemond Syndrome Type 2	Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Coloboma, Hydrocephalus, Micro...	ORPHA:141333
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Cranioectodermal Dysplasia	Abnormality of the dentition, Rhizomelia, Frontal bossing, Abnormal dental enamel morphology, Abn...	ORPHA:1515
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyly of finger, Umbilica...	ORPHA:2311
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Carious teeth, Premature graying of hair, Open bite, Low-set, posteriorly r...	ORPHA:2617
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Retinal...	OMIM:157980
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Intermittent jaundice	OMIM:179700
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Secondary microcephaly, Postnatal growth retardation, Micrognathia, Open mouth, Low...	OMIM:156200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Almond-shaped palpebral f...	ORPHA:521308
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin...	OMIM:613885
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Acrofacial Dysostosis, Palagonia Type	Low-set ears, Micrognathia, Sparse eyelashes, Short neck, Sparse hair, High, narrow palate, Delay...	ORPHA:1787
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Ankyloblepharon, Tooth agenesis, Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1074
Trigonocephaly 1	High, narrow palate, Lumbar hemivertebrae, Wide nasal bridge, Long philtrum, Trigonocephaly, Micr...	OMIM:190440
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly	ORPHA:2921
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Anosmia, Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, M...	OMIM:619718
Steinfeld Syndrome	Bifid uvula, Retinal coloboma, Median cleft palate, Median cleft upper lip, Aplasia/Hypoplasia of...	OMIM:184705
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczematoid dermatitis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Broad thumb, Microretrognathia, Thick lower lip vermilion, Campto...	ORPHA:3080
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Incre...	OMIM:174050
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated circulating ...	ORPHA:435660
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Retinal coloboma, Occip...	OMIM:616546
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E...	OMIM:615381
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Chondrodysplasia Punctata 2, X-Linked Dominant	Hearing impairment, Postnatal growth retardation, Stippled calcification in carpal bones, Sparse ...	OMIM:302960
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Retinal coloboma, Encephalocele, Aganglionic megacolon, Orofacial cleft, H...	ORPHA:220493
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Three M Syndrome 1	Short 5th finger, Slender long bone, Increased vertebral height, Clinodactyly of the 5th finger, ...	OMIM:273750
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Molar tooth s...	OMIM:614120
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve...	OMIM:184255
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis	OMIM:614416
Otodental Syndrome	Abnormality of canine, Otitis media with effusion, Abnormal dental pulp morphology, Carious teeth...	ORPHA:2791
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia	OMIM:233270
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, ...	OMIM:618291
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Umbilical hernia, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Drum...	OMIM:612938
Coffin-Siris Syndrome 3	Hearing impairment, High palate, Wide nose, Delayed skeletal maturation, Long eyelashes, Delayed ...	OMIM:614608
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Cryptorchidism, Broad foot, Talipes, Epicanthus, Pes planus, Evert...	ORPHA:915
Pallister-Hall-Like Syndrome	Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Mi...	OMIM:241800
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly	ORPHA:294975
Distal Limb Deficiencies-Micrognathia Syndrome	Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, Olig...	ORPHA:1307
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact...	OMIM:615982
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Duane-Radial Ray Syndrome	Epicanthus, Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Microp...	OMIM:607323
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia	ORPHA:71529
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic...	OMIM:169550
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom...	ORPHA:363400
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Bardet-Biedl Syndrome 11	Hypogonadism, Retinopathy, Polydactyly	OMIM:615988
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Clark-Baraitser syndrome	Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Fr...	OMIM:300602
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly...	OMIM:611638
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Telecanthus, Encephalocele, Pto...	ORPHA:2117
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Hip contracture, Short neck, Tarsal synostos...	OMIM:178110
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Sparse or abs...	ORPHA:1794
Blepharocheilodontic Syndrome 1	Conical tooth, Clinodactyly, Cleft upper lip, Lagophthalmos, Hypodontia, Euryblepharon, Distichia...	OMIM:119580
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Short thorax, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepat...	ORPHA:435651
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Recurrent sinusit...	OMIM:613101
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ...	OMIM:173800
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Doors Syndrome	Equinovarus deformity, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of...	ORPHA:79500
Ritscher-Schinzel Syndrome 1	Low-set ears, Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Prominent oc...	OMIM:220210
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals...	OMIM:277950
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Simple ear, Microcephaly, Hemiver...	OMIM:619318
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Sens...	ORPHA:71267
Christian Syndrome	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae	OMIM:309620
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Bilate...	OMIM:607597
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Broad nasal tip, Foot joint contracture, Narrow nasal...	ORPHA:166108
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Frontal bossing, Abnormality of the hairline, Sparse eyelashes, Thin upper lip ve...	ORPHA:370079
Frank-Ter Haar Syndrome	Genu recurvatum, Wide nasal bridge, Mandibular prognathia, Depressed nasal bridge, Kyphosis, Dela...	ORPHA:137834
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Short foot, Cleft palate	OMIM:300261
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Kbg Syndrome	Bilateral conductive hearing impairment, Short neck, Widely-spaced maxillary central incisors, Ma...	ORPHA:2332
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:264580
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B...	ORPHA:40
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Filippi Syndrome	Wide nasal bridge, Frontal hirsutism, Underdeveloped nasal alae, Hypertrichosis, Serrated incisor...	OMIM:272440
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Microgn...	OMIM:213980
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, ...	ORPHA:3258
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Low-set ears, Abnormal form of the vertebral bodies, Aplasia/...	ORPHA:2759
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasia, Anonychia, ...	OMIM:212780
Cerebrofaciothoracic Dysplasia	Coarse hair, Cleft upper lip, Low-set, posteriorly rotated ears, Macrocephaly, Thick eyebrow, Wid...	ORPHA:1394
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Micrognathia, Humeroradial synostosis, Sensorineural hearing impa...	OMIM:151050
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol...	ORPHA:2345
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Low-set ears, Widely spaced teeth, Umbilical hernia, Frontal bossing, Prominen...	OMIM:618205
Immunodeficiency 109 With Lymphoproliferation	Bronchiectasis, Splenomegaly, Recurrent sinusitis, Hypertriglyceridemia	OMIM:620282
Congenital Generalized Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertr...	ORPHA:528
Orofaciodigital Syndrome Viii	Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Highly arched eyebrow, Broad thumb, Sandal gap, Retinal coloboma, Hamartoma of t...	OMIM:619775
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles...	OMIM:245900
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidism, Single transverse p...	OMIM:610253
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Kyphosis, Patchy alopecia, Tongue atrophy, Polios...	OMIM:141300
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Developmental And Epileptic Encephalopathy 80	Short distal phalanx of finger, Long philtrum, Micrognathia, Tented upper lip vermilion, Protrudi...	OMIM:618580
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v...	ORPHA:2563
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mo...	OMIM:201170
Schisis Association	Micromelia, Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at...	ORPHA:63862
3C Syndrome	High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Low-set ears, Hypoplastic fingern...	ORPHA:7
Temtamy Syndrome	Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Telecanthus, Micrognathia, Abnormal...	ORPHA:1777
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Cofs Syndrome	Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Intrauterine growth re...	ORPHA:1466
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu...	ORPHA:66637
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane...	ORPHA:166024
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5t...	OMIM:617877
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Limited elbow movement, Tal...	OMIM:134780
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Bifid uvula, Webbed neck, Joint contracture of the hand, Dental malocclusion, Dela...	OMIM:612350
Zechi-Ceide Syndrome	Short distal phalanx of finger, Short palpebral fissure, Sandal gap, Cleft upper lip, Long foot, ...	OMIM:612916
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Blepharophimosis...	OMIM:619110
Braddock Syndrome	Intrauterine growth retardation, Micrognathia, Abnormal hair pattern, Short neck, Posteriorly rot...	ORPHA:52047
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Ring Chromosome 22 Syndrome	Azoospermia, Thick eyebrow, Protruding tongue, 2-3 toe syndactyly, Epicanthus, Large hands, Thick...	ORPHA:1446
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narro...	OMIM:251230
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Terminal Osseous Dysplasia	Toe clinodactyly, Iris coloboma, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg ...	OMIM:300244
Joubert Syndrome 1	Highly arched eyebrow, Postaxial foot polydactyly, Clinodactyly, Chorioretinal coloboma, Optic di...	OMIM:213300
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Obl...	ORPHA:3352
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Hall-Riggs Syndrome	Platyspondyly, Wide nasal bridge, Coarse hair, Delayed eruption of teeth, Downturned corners of m...	ORPHA:2107
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate	OMIM:120433
Pierpont Syndrome	Unilateral narrow palpebral fissure, Cryptorchidism, Broad foot, Everted lower lip vermilion, Ble...	OMIM:602342
Pierpont Syndrome	High anterior hairline, Hearing impairment, Widely spaced teeth, Malar flattening, Wide nasal rid...	ORPHA:487825
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Highly arched eyebrow, Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped ...	OMIM:618825
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Abnormal optic disc morphology, Pes planus, Broad pha...	ORPHA:508498
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Diabetes mellitus, Hepatic steatosis, Abnormal circulat...	OMIM:608709
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So...	OMIM:602418
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Osteopenia, Dental crowding, Sparse lateral eyebrow, Long philtrum, Fine hair, Delay...	OMIM:190351
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Sensorineural h...	OMIM:166750
Smith-Magenis Syndrome	Micrognathia, Open mouth, Delayed eruption of primary teeth, Chronic otitis media, Short nose, Ta...	ORPHA:819
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, Talipes equinovarus...	OMIM:263650
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Oculodentodigital Dysplasia	Carious teeth, Dry hair, Joint contracture of the 5th finger, Microphthalmia, High palate, Sparse...	OMIM:164200
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P...	OMIM:611561
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Elbow dislocation, Hearing impairment, Open bite, Mic...	ORPHA:3107
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Dep...	OMIM:613849
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615990
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Hyperur...	ORPHA:79083
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr...	ORPHA:79319
Rubinstein-Taybi Syndrome 2	Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Long eyel...	OMIM:613684
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retr...	ORPHA:166272
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient...	ORPHA:156
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Tooth agenesis, Sparse body hair, Abnormal dental mo...	ORPHA:2722
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ...	ORPHA:1452
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Broad nasal tip, Prominent ear helix, Large earlobe, Bulbous nose, Long eyelashes, Thick eyebrow,...	ORPHA:411986
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep...	OMIM:602579
Bardet-Biedl Syndrome 7	Clinodactyly, Hypogonadism, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly,...	OMIM:615984
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros...	OMIM:609052
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Bardet-Biedl Syndrome 10	Hypogonadism, Retinal dystrophy, Rod-cone dystrophy, Polydactyly	OMIM:615987
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Juberg-Hayward Syndrome	Highly arched eyebrow, Cleft upper lip, Anteriorly placed anus, Limited elbow extension, Abnormal...	OMIM:216100
Meckel Syndrome 13	Cerebellar hypoplasia, Micrognathia, Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Anophthalmia, Neonatal death, Mic...	OMIM:615524
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Broad thumb, Prominent fingertip pads, Downslanted palpebral fissures, Thin eyebrow, Upper eyelid...	OMIM:617804
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Holoprosencephaly, Epispadias...	OMIM:615948
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal...	ORPHA:3104
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Synostosis of carpal bones, Abnormal antihelix morphology, Abnormal to...	ORPHA:1005
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Occipital encephalocele, Sacral dimple, Dilated fourth ventricle, Cer...	OMIM:614175
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor...	ORPHA:2025
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Intervertebral space narrowi...	OMIM:609223
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Spina bifida occulta, Scoliosis, Optic nerve h...	OMIM:618736
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ...	OMIM:617872
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda...	ORPHA:1106
Symbrachydactyly Of Hands And Feet	Scoliosis, Abnormality of the humeroulnar joint, Vertebral segmentation defect	ORPHA:1570
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Monosomy 18P	Tooth malposition, Carious teeth, Micrognathia, Abnormal antihelix morphology, Low posterior hair...	ORPHA:1598
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Mosaic Trisomy 9	Low-set ears, Webbed neck, Limitation of joint mobility, Small nail, Elbow dislocation, Camptodac...	ORPHA:99776
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Trisomy 4P	Abnormality of the dentition, Depressed nasal bridge, Carious teeth, Delayed skeletal maturation,...	ORPHA:1738
Osteoglosphonic Dysplasia	Severe short stature, Choanal atresia, Rhizomelia, Abnormal form of the vertebral bodies, Delayed...	ORPHA:2645
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep...	OMIM:619386
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas...	ORPHA:2911
Hypotrichosis 1	Abnormality of the dentition, Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelash...	OMIM:605389
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidi...	OMIM:146510
Kapur-Toriello Syndrome	Retinal coloboma, Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma	ORPHA:2328
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Elbow flexion cont...	OMIM:259450
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Epicanthus, Brachydactyly, Hypospadias	ORPHA:1919
Hallermann-Streiff Syndrome	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Everted lower lip vermil...	OMIM:234100
Congenital Heart Defects And Ectodermal Dysplasia	Depressed nasal bridge, High anterior hairline, Widely spaced teeth, Frontal bossing, Anteverted ...	OMIM:617364
Warburg Micro Syndrome 1	Wide nasal bridge, Low-set ears, Facial hypertrichosis, Hypertrichosis, Anteverted nares, Microgn...	OMIM:600118
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go...	ORPHA:412
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Talipes equino...	OMIM:614815
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:615558
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Bifid scr...	ORPHA:1784
Lowry-Maclean Syndrome	Delayed eruption of teeth, Intrauterine growth retardation, Microcephaly, Convex nasal ridge, Cra...	OMIM:600252
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Codas Syndrome	Congenital hip dislocation, Depressed nasal bridge, Crumpled ear, Delayed eruption of teeth, Dela...	ORPHA:1458
Incontinentia Pigmenti	Supernumerary nipple, Hypoplasia of the fovea, Microphthalmia, Sparse hair, Onychogryposis, Alope...	OMIM:308300
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridem...	OMIM:620603
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Retinal coloboma	OMIM:107550
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Scoliosis, Proximal radio-ulnar synostosis, Abnormalit...	ORPHA:2062
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Micrognathia, Narrow mouth, Prominent nasal tip, Short philtrum, Wide nasal bridge,...	OMIM:615834
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Preax...	OMIM:252100
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Scoliosis, Dental malocclusion, Broad nasal tip, Lumbar hyperlordosis...	OMIM:619719
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n...	ORPHA:199296
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ...	OMIM:262400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Clinodactyly, Diastema, Thick lower lip vermilion, Radial deviation of finger, Umbil...	OMIM:301040
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Ankyloblepharon, Micrognath...	ORPHA:1234
Joubert Syndrome 16	Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI, Polydactyly	OMIM:614465
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fle...	OMIM:203550
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Abnormal vertebral morphology, Hypoplasia of the pons, Ethmoidal en...	ORPHA:280195
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Triphalangeal thumb, Abnormal meta...	ORPHA:1406
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Small nail, Hearing impairment, Delayed cranial suture closure, Thoracic hemiverteb...	OMIM:268310
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Slender long bone, Joint hypermobility, Cubitus valgus, Spina bifida occulta, Redu...	ORPHA:1185
Robinow Syndrome	Flared nostrils, Tooth malposition, Low-set ears, Small nail, Ankyloglossia, Marked delay in erup...	ORPHA:97360
Baraitser-Winter Syndrome 1	Iris coloboma, Highly arched eyebrow, Long philtrum, Cleft upper lip, Chorioretinal coloboma, Cry...	OMIM:243310
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion...	ORPHA:10
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Low-set, posterio...	ORPHA:1133
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Tetrasomy 12P	Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe...	ORPHA:884
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Craniometadiaphyseal Dysplasia	Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, ...	OMIM:269300
ERI1-related disease	Platyspondyly, Osteopenia, Pectus carinatum, Narrow chest, Slender metacarpals, Oligodactyly, Inc...	OMIM:608739
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Thoracolumbar kyphoscoliosis, Small nail, Delayed skeletal...	OMIM:617396
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Hypertrichosis, Heari...	OMIM:616354
Trichorhinophalangeal Syndrome Type 1	Sparse hair, Abnormality of the dentition, Sparse eyebrow, Long philtrum, Camptodactyly of finger...	ORPHA:77258
Cockayne Syndrome Type 2	Hearing impairment, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of t...	ORPHA:90322
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Low-set ears, Depressed nasal bridge, Rhizomelia, Vertebral segmentation defect, Microcephaly, He...	OMIM:617661
Autosomal Recessive Amelia	Small scrotum, Micrognathia, Amelia, Cryptorchidism, Acromelia of the lower limbs, Orofacial clef...	ORPHA:1027
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia	ORPHA:2196
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Short neck	ORPHA:2015
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Flat occiput, High, narrow palate, Co...	ORPHA:2780
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Distal Monosomy 7Q36	Optic atrophy, Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Symphala...	ORPHA:1636
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Maternal Hyperthermia-Induced Birth Defects	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ...	ORPHA:2216
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Microphthalmia, High palate, Flat acetabula...	ORPHA:163649
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar...	ORPHA:2437
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Irregular epiphyses, Attenuation of retinal blood vessels, Irregular dentiti...	OMIM:619260
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Cleft upper lip, Tooth agenesis, Ectrodactyly, Cryptorchidism, Hypogonadotropic hyp...	OMIM:147950
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae	OMIM:214300
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Craniolenticulosutural Dysplasia	Carious teeth, Decreased skull ossification, Brittle hair, High palate, Sparse hair, Wide nose, H...	ORPHA:50814
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, Optic disc pallor, Tethered cord	OMIM:615281
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Short nose, Joint stiffness, Micrognathia, Anteverted nares, I...	ORPHA:1915
Kondoh Syndrome	Interphalangeal joint contracture of finger, Long philtrum, Intrauterine growth retardation, Thic...	OMIM:606242
Abruzzo-Erickson Syndrome	Iris coloboma, Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Cryp...	ORPHA:921
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Anencephaly 2	Short palpebral fissure, Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxilla...	OMIM:619452
Micro Syndrome	Optic atrophy, Retinal coloboma, Micrognathia, Cryptorchidism, Abnormality of retinal pigmentatio...	ORPHA:2510
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Ankyloblepharon, Cleft palate, Cleft upper lip	OMIM:106250
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra...	OMIM:617049
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Short distal phalanx of finger, Joint hypermobility, Brachydactyly, Osteoporosis	ORPHA:2787
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Long philtrum, Sacral dimple, Long eyelashes, Narrow mouth, Microcephaly, Short sta...	OMIM:615502
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Chorioretinal coloboma, Open mouth, E...	OMIM:280000
Gorlin Syndrome	Abnormal vertebral morphology, Wide nasal bridge, Carious teeth, Vertebral wedging, Frontal bossi...	ORPHA:377
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand	ORPHA:2440
Coloboma Of Macula With Type B Brachydactyly	Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, T...	OMIM:108720
Triploidy	Hypospadias, Iris coloboma, Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth...	ORPHA:3376
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Seckel Syndrome 10	Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl...	OMIM:617253
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o...	ORPHA:401942
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Congenital Herpes Simplex Virus Infection	Hydranencephaly	ORPHA:293
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Blepharonasofacial Malformation Syndrome	Optic atrophy, Finger syndactyly, Long philtrum, Tooth agenesis, Sparse lateral eyebrow, Telecant...	ORPHA:1252
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingual frenulum, Short neck...	ORPHA:96121
Chromosome 17P13.1 Deletion Syndrome	Long hallux, Arachnodactyly, Epicanthus, Everted lower lip vermilion, Narrow palpebral fissure, H...	OMIM:613776
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Short n...	ORPHA:3473
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Vertebral wedging, Cleft upper lip, Frontal bossing, Macrocephaly, Kyphoscolio...	OMIM:109400
Temple-Baraitser Syndrome	Everted upper lip vermilion, Open mouth, Absent toenail, Everted lower lip vermilion, High palate...	ORPHA:420561
Popliteal Pterygium Syndrome	Bifid uvula, Small scrotum, Intercrural pterygium, Fibrous syngnathia, Popliteal pterygium, Cleft...	OMIM:119500
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft palate	OMIM:616570
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat...	OMIM:251450
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio	OMIM:614662
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,...	OMIM:271530
Congenital Sialidosis Type 2	Optic atrophy, Cherry red spot of the macula, Umbilical hernia, Gingival overgrowth, Protruding t...	ORPHA:93400
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Micrognathia, Pear-shaped nose, Thin nail, Accelerated bone age after puberty, Mac...	OMIM:190350
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Myelomeningocele, Micrognathia, Cryptorchidism, Ups...	ORPHA:1752
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Fragile X Syndrome	Mandibular prognathia, Abnormal head movements, Joint hypermobility, Macrocephaly, Scoliosis, Mac...	OMIM:300624
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Elbow dislocation, Hearing impairment, Atresia of th...	OMIM:224690
Coffin-Siris Syndrome 2	Small nail, Hearing impairment, High palate, Abnormal pinna morphology, Wide nose, Delayed skelet...	OMIM:614607
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, High palate, Flat o...	OMIM:613792
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatome...	ORPHA:2348
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Holoprosencephaly, Delayed eruption...	ORPHA:96264
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Hypodontia, Sparse hair, Growth delay	OMIM:246500
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Downturned corners of mouth, Postnatal growth retardation, Long eyelashes,...	OMIM:300590
Aminopterin/Methotrexate Embryofetopathy	Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Micrognathia, Encephalocele, Talipes...	ORPHA:1908
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Sandal gap, Cleft upper lip, Widely spaced teeth, Downslanted palpebral fissures,...	OMIM:612530
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnor...	ORPHA:2325
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis	ORPHA:26792
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Optic disc coloboma, Downslanted palpebral f...	OMIM:174300
Cerebrooculonasal Syndrome	Sparse eyebrow, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Anophthalm...	ORPHA:66625
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Wide nasal bridge, Low-set ears, Rhizomelia, Downturned corners of mouth, Microgna...	ORPHA:93267
Three M Syndrome 2	Severe short stature, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Lon...	OMIM:612921
Trichorhinophalangeal Syndrome Type 2	Genu valgum, Joint dislocation, Delayed skeletal maturation, Thick nasal alae, Bulbous nose, Avas...	ORPHA:502
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropr...	ORPHA:98798
Oculodentodigital Dysplasia	Carious teeth, Hearing impairment, Micrognathia, Brittle hair, Curly hair, Sparse hair, Abnormali...	ORPHA:2710
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome...	OMIM:618892
Epiphyseal Dysplasia, Multiple, 6	Schmorl's node, Intervertebral disk calcification, Osteoarthritis, Abnormality of the knee, Knee ...	OMIM:614135
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Hypotrichosis 10	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of ...	OMIM:614238
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Abnormal digit morphology, Palm...	OMIM:268850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Ogden Syndrome	High, narrow palate, Low-set ears, Microretrognathia, Abnormal head movements, Everted upper lip ...	ORPHA:276432
Pseudodiastrophic Dysplasia	Platyspondyly, Webbed neck, Rhizomelia, Hypoplasia of the odontoid process, Severe short stature,...	OMIM:264180
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Micrognat...	ORPHA:2496
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Craniolenticulosutural Dysplasia	Carious teeth, Brittle hair, High palate, Sparse hair, Osteopenia, Thin upper lip vermilion, Macr...	OMIM:607812
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas...	OMIM:618761
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Bowing of the arm, Barrel-shaped chest, Joint hypermobility, P...	OMIM:619131
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hip contracture, Talipes equinovarus, Short neck, Flexion contract...	OMIM:193700
Chime Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, ...	ORPHA:3474
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs...	ORPHA:2026
Rapp-Hodgkin Syndrome	Carious teeth, Velopharyngeal insufficiency, Small nail, Supernumerary nipple, Hearing impairment...	OMIM:129400
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Iris coloboma, Short palpebral fissure, Sparse eyebrow, Dental crowding, Long philtrum, Retinal c...	OMIM:620654
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Congenital Amegakaryocytic Thrombocytopenia	Short neck, Scoliosis, Abnormal form of the vertebral bodies, Decreased skull ossification	ORPHA:3319
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft lip, Upslanted palpebral fissure, Arachnodactyly, Long toe, Pes planus, Large hands, Cleft ...	OMIM:300263
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Hearing impairment, Gingival overgrowth,...	ORPHA:2222
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of...	OMIM:617926
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Talipes, Clinodactyly of the 5th fing...	ORPHA:376
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Coloboma Of Macula	Macular coloboma	OMIM:120300
Joubert Syndrome 7	Hypoplasia of the brainstem, Brainstem dysplasia, Genu valgum, Encephalocele, Postaxial polydacty...	OMIM:611560
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Intellectual Developmental Disorder, Autosomal Dominant 72	Thin upper lip vermilion, Smooth philtrum, Epicanthus, Spina bifida, Shawl scrotum, Micropenis, B...	OMIM:620439
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro...	ORPHA:753
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Congenital Disorder Of Glycosylation, Type Iia	Slender long bone, Long philtrum, Diastema, Downslanted palpebral fissures, Macrodontia, Long eye...	OMIM:212066
Pycnodysostosis	Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Frontal bossing, Persistence o...	OMIM:265800
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly	OMIM:615991
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Coloboma, Brachydactyly, Microphthalmia, Iris coloboma, Syndactyly	OMIM:610023
Oculoauricular Syndrome	Nasolacrimal duct obstruction, Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, C...	OMIM:612109
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Craniosynostosis 6	Right unilambdoid synostosis, Bicoronal synostosis, Craniosynostosis, Spina bifida occulta, Scoli...	OMIM:616602
Pseudotrisomy 13 Syndrome	Holoprosencephaly, Postaxial foot polydactyly, Cleft upper lip, Cyclopia, 11 pairs of ribs, Media...	OMIM:264480
Split-Hand/Foot Malformation 1	Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala...	OMIM:183600
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Micrognathia, Cryptorchidism, Subm...	ORPHA:2189
Trisomy 13	High, narrow palate, Abnormality of the dentition, Optic atrophy, Abnormal pelvic girdle bone mor...	ORPHA:3378
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or ...	ORPHA:79237
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Bil...	ORPHA:1120
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Epicanthus, High palate, Accessory o...	OMIM:277170
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Brachydactyly, Single transverse palmar crease, Short palm	OMIM:101805
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys...	ORPHA:2501
Trisomy 18	Narrow mouth, Cryptorchidism, Bilateral single transverse palmar creases, Epicanthus, Blepharophi...	ORPHA:3380
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Bowing of the long bones, Hydrocephalus, Molar toot...	OMIM:611134
Endocrine-Cerebroosteodysplasia	Small scrotum, Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Cryptorchidi...	OMIM:612651
Aarskog-Scott Syndrome	Hypoplasia of the odontoid process, Clinodactyly, Cryptorchidism, Broad foot, Pes planus, Short f...	OMIM:305400
Cornelia De Lange Syndrome 5	Hearing impairment, Postnatal growth retardation, Micrognathia, Short neck, High palate, Broad na...	OMIM:300882
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Clitoral hypertrophy, Pigmentary retinopathy, Ulnar deviation of the hand or...	OMIM:214100
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Gapo Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sparse eyelashes, Decreased skull ossification, E...	ORPHA:2067
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Micrognathia, Narrow mouth, Sparse eyelashes, Microphthalmia, Long nose, Sparse hai...	OMIM:257850
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Depressed nasal bridge, Low-set, posteriorly rotated ears, Furrowed tongue, Mi...	ORPHA:1387
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Highly arched eyebrow, Sparse eyebrow, Broad thumb, Sandal gap, Cleft upper lip...	OMIM:600987
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Coloboma, Hydrocephalus, Microphthalmia, Retinal dysplasia	ORPHA:324416
Lamb-Shaffer Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Dental crowding, Frontal bossing, Bulbou...	OMIM:616803
Focal Segmental Glomerulosclerosis 1	Ascites, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Moebius Syndrome	Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim...	OMIM:157900
Trisomy 9P	Dental crowding, Downturned corners of mouth, Kyphosis, Hypoplastic fingernail, Impacted tooth, F...	ORPHA:236
Cerebrooculonasal Syndrome	Low-set ears, Postnatal growth retardation, Anophthalmia, Encephalocele, Sparse eyelashes, High p...	OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long philtrum, Sand...	OMIM:615761
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, Macro...	ORPHA:324410
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec...	OMIM:602557
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Retrognathia, Abnormal form of the vertebral bodie...	ORPHA:3412
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Webbed neck, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Micrognathia, ...	OMIM:616549
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Cerebrooculofacioskeletal Syndrome 2	Hearing impairment, Camptodactyly of finger, Prominent nose, Micrognathia, Intrauterine growth re...	OMIM:610756
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c...	ORPHA:2712
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Low-set ears, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of fing...	ORPHA:2863
Trisomy 20P	Finger syndactyly, Micrognathia, Cryptorchidism, Talipes, Epicanthus, Everted lower lip vermilion...	ORPHA:261318
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Osteopenia, Delayed skeletal maturation, Narrow mouth, Malar flattening, Wi...	ORPHA:2463
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
3Mc Syndrome 3	Tessier cleft, Highly arched eyebrow, Clinodactyly, Bifid scrotum, Cleft upper lip, Preaxial poly...	OMIM:248340
Lowry-Maclean Syndrome	Low-set ears, Micrognathia, Delayed eruption of primary teeth, Short nose, High, narrow palate, O...	ORPHA:2409
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Micrognathia, Mild conductive hearing impairment, ...	ORPHA:763
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Ankyloblepharon, Popliteal pterygium, Micrognathia, Absent distal...	OMIM:619339
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration	OMIM:618398
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Bilateral cryptorchidism, Hamartoma ...	ORPHA:434179
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Prominent nose, Micrognathia, Intrauterine growth retardation, Thoracic scoliosis, Lumbar scolios...	OMIM:616171
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Coloboma, Hypospadias, Cleft palate	OMIM:302905
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi...	ORPHA:96183
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Retinal coloboma, Long hallux, Downslanted palpebral fi...	ORPHA:500095
3M Syndrome	Short neck, Everted lower lip vermilion, Abnormality of the elbow, Delayed skeletal maturation, B...	ORPHA:2616
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Catel-Manzke Syndrome	Highly arched eyebrow, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Mic...	ORPHA:1388
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:2631
Baraitser-Winter Syndrome 2	Webbed neck, Highly arched eyebrow, Retrognathia, Long philtrum, Hearing impairment, Secondary mi...	OMIM:614583
Nail-Patella Syndrome	Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,...	OMIM:161200
Raine Syndrome	Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protru...	OMIM:259775
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Narrow mouth, Sensorineural hearing impairment, Short neck, Sparse hair, Macrotia, ...	ORPHA:391408
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Webbed neck, Depressed nasal bridge, Cleft lip, Broad nasal tip, Cupped ear, Depres...	OMIM:618223
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Jo...	ORPHA:1801
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equino...	OMIM:253010
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Aminopterin Syndrome Sine Aminopterin	Low-set ears, Highly arched eyebrow, Joint contracture of the hand, Umbilical hernia, Intrauterin...	OMIM:600325
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fi...	OMIM:613091
Larsen-Like Syndrome	Low-set ears, Joint dislocation, Dental malocclusion, Delayed skeletal maturation, Conductive hea...	OMIM:608545
Hall-Riggs Syndrome	Platyspondyly, Depressed nasal bridge, Kyphosis, Delayed skeletal maturation, Thick lower lip ver...	OMIM:234250
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Trigonocephaly, Delayed eruption of permanent teeth, Anteverted nares, Exaggerated ...	OMIM:618506
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move...	ORPHA:1826
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Shor...	OMIM:277720
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 13	Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum, Short philtrum, Sy...	OMIM:613192
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias	OMIM:264600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Macrotia, Postnatal growth retardation, Intrauterine growth retardation, Micrognath...	OMIM:615419
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Downslanted palpebral fi...	OMIM:612913
Kabuki Syndrome	Sensorineural hearing impairment, Vertebral clefting, High palate, Hip dislocation, Macrotia, Lon...	ORPHA:2322
Developmental And Speech Delay Due To Sox5 Deficiency	Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis	ORPHA:313892
Proteus Syndrome	Carious teeth, Finger syndactyly, Chorioretinal coloboma, Open mouth, Abnormal metacarpal morphol...	ORPHA:744
Microphthalmia/Coloboma 9	Ptosis, Retinal detachment, Narrow palpebral fissure, Microphthalmia, Iris coloboma, Macular colo...	OMIM:615145
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Umbilical hernia, Oligodactyly, Median pseudocleft lip, Upslanted palpebral fissure, Ptosis, Clin...	OMIM:619758
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Patchy distortion of...	OMIM:155050
Atkin-Flaitz Syndrome	Abnormality of the dentition, Broad nasal tip, Macrocephaly, Anteverted nares, Everted lower lip ...	ORPHA:1193
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne...	ORPHA:94068
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Chilbl...	OMIM:619858
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Retinal pigment ...	OMIM:617102
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Sparse eyebrow, Rhizomelia, Delayed eruption of teeth, Long philtrum, Abno...	ORPHA:263463
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Trisomy 10P	Low-set ears, Micrognathia, High palate, Macrotia, Short nose, Abnormality of the nose, Orofacial...	ORPHA:171929
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Abnormal sacral segmentation, Long philtru...	ORPHA:480907
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Clinodactyly, Talipes calcaneovalgus, Micrognathia, Open mouth, Protruding tongue,...	OMIM:309580
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Cleft ala nasi, Anophthalmia, Orbital encephalocele, Microp...	OMIM:164180
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o...	OMIM:613628
48,Xxxy Syndrome	Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Ab...	ORPHA:96263
Kuskokwim Syndrome	Joint stiffness, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella	ORPHA:1149
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Osteogenesis Imperfecta, Type Xx	Low-set ears, Crumpled ear, Multiple prenatal fractures, High palate, Sparse hair, Plagiocephaly,...	OMIM:618644
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos...	ORPHA:85198
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Natal tooth, Trigonocephaly, Scaphocephaly,...	OMIM:616901
Isolated Glycerol Kinase Deficiency	Osteoporosis, Scoliosis, Hyperlordosis	ORPHA:408
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Micrognathia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Micr...	OMIM:268400
Cole-Carpenter Syndrome	Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Frontal bossing, Abno...	ORPHA:2050
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Everted lower lip vermi...	OMIM:618342
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Macrocephaly,...	ORPHA:364028
2Q32Q33 Microdeletion Syndrome	Low-set ears, Dental crowding, Growth delay, Long philtrum, Fine hair, Anteverted nares, Microgna...	ORPHA:251019
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Weismann-Netter Syndrome	Severe short stature, Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperosto...	OMIM:112350
Acrodysostosis	Hearing impairment, Open bite, Open mouth, Genu varum, Abnormality of the nail, Short nose, Depre...	ORPHA:950
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va...	ORPHA:2972
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Postnatal growth retardation, Microcephaly, Short stature,...	OMIM:619489
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Microphthalmia, Anal atresia, Flat aceta...	OMIM:616300
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ...	OMIM:259600
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Aplasia Cutis Congenita	Toe syndactyly, Spinal dysraphism, Finger syndactyly	ORPHA:1114
Even-Plus Syndrome	Severe short stature, Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Hypodontia, ...	OMIM:616854
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Sensorineural hearing impairment...	ORPHA:192
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar...	OMIM:212140
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Downslanted palpebral fissures, Long hallux, Long foot, Epicanthus, Long palpeb...	OMIM:617107
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Pectus carinatum, Increased bone mineral density, Umbilical hernia, Wide distal fe...	OMIM:614856
Fetal Akinesia Deformation Sequence 4	Wide nasal bridge, Low-set ears, Retrognathia, Micrognathia, Prenatal death, Neonatal death, Shor...	OMIM:618393
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicorn...	OMIM:600776
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces...	OMIM:258860
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Broad foot, Limited elb...	OMIM:261540
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Abnormality of the dentition, Alopecia, Conical tooth, Coronal craniosynostosis, De...	ORPHA:228390
Holoprosencephaly	Anophthalmia, Encephalocele, Abnormal antihelix morphology, Short neck, Microphthalmia, Holoprose...	ORPHA:2162
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Frontonasal Dysplasia 2	Low-set ears, Alopecia totalis, Encephalocele, Sparse eyelashes, Aplasia of the nasal bone, Micro...	OMIM:613451
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:614582
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi...	ORPHA:337
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal epiphysis morphology, L...	ORPHA:50945
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Mycetoma	Abnormal form of the vertebral bodies, Painless fractures due to injury, Abnormal forearm bone mo...	ORPHA:2583
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Narrow mouth, Microcephaly, Brachycephaly, Microphthalmia, Short stature, High pala...	ORPHA:2528
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Sensorineural hearing im...	OMIM:601812
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Bifid uvula, Highly arched eyebrow, Depressed nasal bridge, Flat occiput, Conductiv...	OMIM:617412
Lateral Meningocele Syndrome	Low-set ears, Micrognathia, Short neck, High palate, Biconcave vertebral bodies, Abnormality of t...	OMIM:130720
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Broad thumb, Finger syndactyly, Long philtrum, Bifid scrotum, Preaxial...	ORPHA:2211
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Downslanted palpebral fissures, Protruding tongue, Submucous cleft hard palate, ...	OMIM:618106
Sandestig-Stefanova Syndrome	Wide nasal bridge, Highly arched eyebrow, Low-set ears, Retrognathia, Sparse medial eyebrow, Trig...	OMIM:618804
Spondylo-Ocular Syndrome	Platyspondyly, Webbed neck, Low-set ears, Long philtrum, Abnormal eyebrow morphology, Abnormal an...	ORPHA:85194
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Downslanted palpebral fissures, Limited elbow extension,...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Low-set ea...	ORPHA:444072
Frontometaphyseal Dysplasia 1	Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow move...	OMIM:305620
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Gingival overgrowth, Narrow mouth, Protruding tongue, Hypoplastic vertebral bodies...	OMIM:230600
Distal Deletion 10P	Downslanted palpebral fissures, Micrognathia, Cryptorchidism, Bilateral single transverse palmar ...	ORPHA:1580
Joubert Syndrome 36	Mesoaxial hand polydactyly, Molar tooth sign on MRI	OMIM:618763
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormality of the dentition, Alopecia universalis, Periodontitis, Hearing impairment, Sparse bod...	ORPHA:1008
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per...	ORPHA:567548
Prieto Syndrome	Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Osteoporosis, Co...	OMIM:309610
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Meckel Syndrome, Type 9	Talipes equinovarus, Ambiguous genitalia, Occipital encephalocele, Limb undergrowth	OMIM:614209
Chondrodysplasia With Joint Dislocations, Gpapp Type	Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Micrognathia, Narrow mouth, Limit...	OMIM:614078
Omodysplasia 2	Limited elbow flexion, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopla...	OMIM:164745
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Sparse eyebrow, Ankyloglossia, Unilateral microphthalmos, Bilateral cleft palate, ...	OMIM:618874
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Delayed skeletal maturati...	ORPHA:73272
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Tarsal synostosis, Widely-spaced max...	ORPHA:363417
Achondrogenesis, Type Ia	Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metaphysis morphology, Hypoplastic...	OMIM:200600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Median cleft upper lip, Abnormal morphology of the radius, Cyclopia, Holoprosen...	ORPHA:2165
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Broad hallux, Umbilical hernia, Micrognathia, Protruding tongue, Single tr...	OMIM:617062
Recombinant Chromosome 8 Syndrome	Low-set ears, Abnormality of the dentition, Joint contracture of the hand, Depressed nasal bridge...	OMIM:179613
Cranioectodermal Dysplasia 4	Anteverted nares, Joint hypermobility, Taurodontia, Smooth philtrum, Protruding ear, Sagittal cra...	OMIM:614378
Marshall-Smith Syndrome	Optic atrophy, Slender long bone, Gingival overgrowth, Open mouth, Protruding tongue, Bowing of t...	ORPHA:561
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Gonadal dysgenesis, Umbilical hernia, Downslanted palpebral fissures, Bilateral sing...	ORPHA:1770
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, High anterior hairline, Microcephaly, Macrocephaly, Short stature, Notched primary ...	OMIM:620062
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Cantu Syndrome	Platyspondyly, Narrow chest, Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical he...	OMIM:239850
Pseudopseudohypoparathyroidism	Depressed nasal bridge, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Short stature, ...	OMIM:612463
Koolen-De Vries Syndrome	Everted lower lip vermilion, Hip dislocation, High, narrow palate, Thick nasal alae, Bulbous nose...	ORPHA:96169
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome...	OMIM:266200
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh...	OMIM:255800
Thakker-Donnai Syndrome	Webbed neck, Downturned corners of mouth, Bulbous nose, Anteverted nares, Intrauterine growth ret...	ORPHA:1780
Acro-Renal-Mandibular Syndrome	Kyphosis, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Low-set, posteriorl...	ORPHA:958
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Hypoplastic cervical vertebrae, Sparse eyelashes, Sensorineural hearing impairment,...	ORPHA:35173
Chopra-Amiel-Gordon Syndrome	Flared nostrils, High anterior hairline, Cleft lip, Delayed skeletal maturation, Thick nasal alae...	OMIM:619504
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Polydactyly, Smooth philtrum, Epicanthus, Hydrocephalus, Micropht...	OMIM:602501
Holoprosencephaly 9	Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Anophthalmia, Bila...	OMIM:610829
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Sh...	ORPHA:2234
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c...	OMIM:618805
Craniofrontonasal Dysplasia	Wide nasal bridge, Abnormality of the dentition, Depressed nasal ridge, Ridged fingernail, Plagio...	ORPHA:1520
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Narrow mouth, Cryptorchidism, Epicanthus, Anal atresia, Hypospadias, Mi...	ORPHA:94065
Isotretinoin Syndrome	Spina bifida occulta, Sacral dimple	ORPHA:2305
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a...	OMIM:235700
Sheldon-Hall Syndrome	Wide nasal bridge, Webbed neck, Joint stiffness, Micrognathia, Tarsal synostosis, Vertebral segme...	ORPHA:1147
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Sparse eyelashes, Wide nose, Sparse eyebrow, Plagiocephaly, Delayed skeletal matura...	OMIM:619293
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Pes planus, Micropenis, Finger jo...	OMIM:244200
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Joint hypermobility	ORPHA:230839
Joubert Syndrome 14	Optic atrophy, Highly arched eyebrow, Downslanted palpebral fissures, Morning glory anomaly, Tent...	OMIM:614424
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Delayed eruption of teeth, Delayed skeletal maturation, Joint hypermobility, ...	ORPHA:63442
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Supernumerary ribs, Bilateral talipes equinovarus, Osteoporosis, Coxa valga	ORPHA:2958
Galactosemia Iii	Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa...	OMIM:136300
Bardet-Biedl Syndrome 16	Hypogonadism, External genital hypoplasia, Retinal degeneration, Polydactyly, Rod-cone dystrophy	OMIM:615993
Suleiman-El-Hattab Syndrome	Highly arched eyebrow, Palpebral thickening, Microretrognathia, Downturned corners of mouth, Long...	OMIM:618950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f...	OMIM:603553
Limb-Mammary Syndrome	Bifid uvula, Sparse eyebrow, Cleft lip, Toe syndactyly, Blepharitis, Lacrimal duct atresia, Oligo...	ORPHA:69085
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Mosaic Trisomy 14	Lower limb asymmetry, Camptodactyly of finger, Wide mouth, Micrognathia, Cryptorchidism, Bilatera...	ORPHA:1703
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, ...	OMIM:611209
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Ring Chromosome 21 Syndrome	Thoracic hemivertebrae, Microcephaly, Fused thoracic vertebrae, Short stature, Holoprosencephaly,...	ORPHA:1445
Burn-Mckeown Syndrome	Bifid uvula, Short palpebral fissure, Cleft upper lip, Micrognathia, Narrow mouth, Lower eyelid c...	OMIM:608572
Down Syndrome	Narrow mouth, Protruding tongue, Open mouth, Bilateral single transverse palmar creases, Epicanth...	ORPHA:870
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Small scrotum, Carious teeth, Toe syndactyly, Finger syndactyly, Cl...	ORPHA:3253
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Microphthalmia, Syndromic 13	Kyphoscoliosis, Microcephaly, Microphthalmia, Short stature, Anteverted ears, Widely-spaced incisors	OMIM:300915
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog...	ORPHA:3429
Braddock-Carey Syndrome 1	Wide nasal bridge, Growth delay, Macrotia, Anteverted nares, Curly hair, Microcephaly, Enamel hyp...	OMIM:619980
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Blepharophimosis, Microphthalmia, Downt...	ORPHA:404440
Garg-Mishra Progeroid Syndrome	Platyspondyly, Dental crowding, Small nail, Persistent open anterior fontanelle, Secondary microc...	OMIM:620601
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	ORPHA:42
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Low-set ears, Plagiocephaly, Underdeveloped nasal alae,...	ORPHA:77300
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated ...	OMIM:101800
Zttk Syndrome	Low-set ears, Narrow mouth, Curly hair, High palate, Short nose, Hypoplasia of the maxilla, Spars...	OMIM:617140
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Depressed nasal ridge, Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized hirsut...	ORPHA:1816
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Reduced arm span, Arthralgia...	ORPHA:166002
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Supernumerary nipple, Joint contracture of the 5th finger, Microphthalmia, Sparse e...	OMIM:620098
X-Linked Hypohidrotic Ectodermal Dysplasia	Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, ...	ORPHA:181
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Long philtrum, Long eyelashes, Micrognathia, Anteverted nares, ...	OMIM:618577
20P13 Microdeletion Syndrome	Highly arched eyebrow, Finger syndactyly, Clinodactyly, Downslanted palpebral fissures, Telecanth...	ORPHA:313781
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Elbow dislocation, Hypoplastic cervical vertebrae, Knee dislocation, Small ep...	OMIM:620269
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Highly arched eyebrow, Abnormally large globe, Downturned corners...	OMIM:239300
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Depressed nasal bridge, Alopecia, Rhizomelia, Micrognathia, Epiphyseal stip...	OMIM:215100
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Postnatal growth retardation, Narrow mout...	ORPHA:138
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Hypoplastic fifth fingernail, Open mouth, Everted lower lip vermilion, Long nose, H...	OMIM:615866
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Hearing impairment, Open mouth, Frontal upsweep of hair, Short neck, High palate, S...	ORPHA:369891
Rhizomelic Syndrome, Urbach Type	Depressed nasal bridge, Hip dislocation, Rhizomelia, Limitation of joint mobility, Abnormal form ...	ORPHA:3098
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Abnormal hair whorl, Wide nasal bridge, Low-set ears, Contractu...	ORPHA:2872
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Epicanthus, High palate, ...	OMIM:614091
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Low posterior hairline, Short nose, Macrotia, Abnormality of t...	ORPHA:2701
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen...	ORPHA:49042
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Depressed nasal ridge, Low-set ears, Rhizomelia, Frontal bossing, Intrauterine gro...	ORPHA:163966
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Low-set ears, Bilateral choanal at...	OMIM:619859
Meckel Syndrome, Type 2	Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand poly...	OMIM:603194
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Long philtrum, Retinal coloboma, Downslanted palpebral fissures, Microgna...	OMIM:300749
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Epica...	ORPHA:251014
Autosomal Dominant Popliteal Pterygium Syndrome	Small scrotum, Toe syndactyly, Lip pit, Fibrous syngnathia, Bifid scrotum, Finger syndactyly, Pop...	ORPHA:1300
8Q24.3 Microdeletion Syndrome	Branchial cyst, Talipes, Epicanthus, Short hallux, Pes planus, Cleft maxillary alveolar ridge, Sh...	ORPHA:508488
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Postaxial Acrofacial Dysostosis	Pyloric stenosis, Conical tooth, Congenital hip dislocation, Short thumb, Cleft upper lip, Downsl...	OMIM:263750
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Abnormal hair morphology, Abnormal fingernail morphology, Agenesis ...	OMIM:604625
Gapo Syndrome	Delayed cranial suture closure, Micrognathia, Sparse eyelashes, Sparse hair, Short nose, High, na...	OMIM:230740
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Splenomegaly, Skin rash, Myositis, Sinus...	OMIM:617591
Microphthalmia With Brain And Digit Anomalies	Iris coloboma, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cryptorchid...	ORPHA:139471
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral single transverse palmar...	ORPHA:1786
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Downturned corners of mouth, Fine hair, Delayed skeletal maturatio...	OMIM:616817
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Distal Deletion 17Q	Optic atrophy, Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Abno...	ORPHA:1597
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclu...	OMIM:616202
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Sensori...	ORPHA:1883
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Glycosylphosphatidylinositol Biosynthesis Defect 17	Osteomyelitis, Abnormality of alkaline phosphatase level, Chronic otitis media, Hypertriglyceridemia	OMIM:618010
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificati...	ORPHA:1426
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Irregular ...	OMIM:226980
Absent Radius-Anogenital Anomalies Syndrome	Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Hydroceph...	ORPHA:3016
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ...	OMIM:224300
Acrootoocular Syndrome	High, narrow palate, Wide nasal base, Low-set ears, Dental malocclusion, Delayed eruption of teet...	ORPHA:2980
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph...	OMIM:615486
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Hearing impairment, Cleft mandible, Everted lower lip vermilion, Microphthalmia, Shor...	ORPHA:364577
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Conductive hearing...	ORPHA:3145
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor...	ORPHA:96148
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Telecanthus, Med...	ORPHA:1827
Neuralgic Amyotrophy	Bifid uvula, Short palpebral fissure, Narrow mouth, Epicanthus, Syndactyly, Scapular winging, Cle...	ORPHA:2901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis	OMIM:606612
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of...	ORPHA:2078
Faundes-Banka Syndrome	Low-set ears, Long ear, Micrognathia, Plagiocephaly, Bulbous nose, Thin upper lip vermilion, Prim...	OMIM:619376
Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bow...	OMIM:617952
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Finger joint contracture, Malar prominence, Intrauterine growth retardation, Micrognathia, Abnorm...	ORPHA:48431
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the dentition, Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality...	OMIM:601553
Adenylosuccinate Lyase Deficiency	Low-set ears, Flat occiput, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth phi...	ORPHA:46
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,...	OMIM:613327
Waardenburg Syndrome Type 1	Cleft upper lip, Telecanthus, Thick eyebrow, Tented upper lip vermilion, Aganglionic megacolon, P...	ORPHA:894
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Intrauterine growth ret...	ORPHA:2370
Braddock-Carey Syndrome 2	Clinodactyly, Downslanted palpebral fissures, Microphthalmia, Wide mouth, Cleft palate, Pierre-Ro...	OMIM:619981
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,...	OMIM:615710
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Hemivertebrae, Flat acetabular roof, Scoliosis, Hip dislocation	OMIM:619345
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Joint hypermobility, Kyphoscoliosis, Diaphyseal dysplasia, Metaphyseal dysp...	OMIM:614727
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Lower limb asymmetry, Upper limb asymmetry, Polydactyly, Clinodactyly of the 5th...	ORPHA:231140
Mucopolysaccharidosis, Type Ii	Severe short stature, Delayed eruption of teeth, Hearing impairment, Hypertrichosis, Widely space...	OMIM:309900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Joint stiffness, Micrognathia, Abnormal lower lip morphology, Vertebral segmentat...	ORPHA:1166
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Duplication of phalanx of hallux, Molar tooth sign on...	OMIM:617127
Chondroectodermal Dysplasia With Night Blindness	Platyspondyly, Osteopenia, Epiphyseal dysplasia, Fractures of the long bones, Wide humerus, Metap...	ORPHA:319195
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Widely spaced teeth, Anteverted nares, Micrognathia, Knee flexion contrac...	OMIM:619694
Leukocyte Adhesion Deficiency Type Ii	Umbilical hernia, Overlapping toe, Gingival overgrowth, Long eyelashes, Protruding tongue, Broad ...	ORPHA:99843
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi...	OMIM:232200
Pai Syndrome	Bifid uvula, Downslanted palpebral fissures, Telecanthus, Encephalocele, Median cleft upper lip, ...	ORPHA:1993
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Narrow nasal bridge, Malar flattening, Microce...	ORPHA:85172
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Elbow dislocation, Synos...	ORPHA:90650
Ramon Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens...	ORPHA:3019
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Advanced ossificat...	OMIM:618363
Aicardi Syndrome	Block vertebrae, Sparse lateral eyebrow, Cleft upper lip, Postnatal growth retardation, Anteverte...	OMIM:304050
Idiopathic Juvenile Osteoporosis	Kyphosis, Osteoporosis, Vertebral compression fracture, Recurrent fractures, Bone pain	ORPHA:85193
Sialidosis Type 2	Pectus carinatum, Umbilical hernia, Short thorax, Osteoporosis, Flexion contracture, Kyphosis	ORPHA:87876
16P13.11 Microdeletion Syndrome	Cleft upper lip, Camptodactyly of finger, Downslanted palpebral fissures, Cryptorchidism, Exagger...	ORPHA:261236
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr...	OMIM:610967
Nicolaides-Baraitser Syndrome	Everted lower lip vermilion, Sparse hair, High, narrow palate, Alopecia, Joint dislocation, Delay...	ORPHA:3051
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Thick eye...	OMIM:619736
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small nail, Postnatal growth retardation, Micrognathia, Narrow mouth, Large placenta, Short neck,...	ORPHA:96334
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Anophthalmia, Microphthalmia	ORPHA:85275
Temple Syndrome	Recurrent otitis media, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyce...	OMIM:616222
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Low-set ears, Hearing impairment, Short neck, High palate, Abnormal pinna morphology, Macrotia, F...	OMIM:617452
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Narrow mouth, Ridged fingernail, Plagiocephaly, Downturned corners ...	ORPHA:2215
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Small nail, Downturned corners of mouth, Tooth agenesis, Cervical platyspondyly, M...	OMIM:618731
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, Epicanthus, High palate, Syndactyly, Do...	OMIM:311200
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Microphthalmia/Coloboma 3	Iris coloboma, Microphthalmia	OMIM:610092
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Aplasia/Hypoplasia of fingers, Microglossia, Cleft palate	ORPHA:141152
Bruck Syndrome	Platyspondyly, Joint stiffness, Recurrent fractures, Bowing of the long bones, Talipes equinovaru...	ORPHA:2771
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg...	ORPHA:56304
Temtamy Syndrome	Highly arched eyebrow, Dental crowding, Long philtrum, Chorioretinal coloboma, Downslanted palpeb...	OMIM:218340
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Hearing impairment, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis,...	ORPHA:178377
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Long eyelashes, Upslan...	OMIM:617883
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of...	ORPHA:2251
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Hepatomegaly, ...	OMIM:615630
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Nager Syndrome	Sparse lower eyelashes, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Microgn...	ORPHA:245
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia	ORPHA:35
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal calvaria morphology, Synostosis of carpal bones, Camptodactyly of finger, Joint stiffnes...	ORPHA:1323
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Exte...	ORPHA:65759
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Low-set ears, Osteopenia, Plagiocephaly, Frontal bossing, Bulbous nose, Prominent nose, Anteverte...	OMIM:616801
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Low-set ears, Osteopenia, Delayed skeletal maturation, Fine hair, Frontal bossing, Bulbous nose, ...	ORPHA:2324
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly	OMIM:238970
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Low-set ears, Sparse eyebrow, Hearing impairment, Frontal bossing, Short columella, Wide mouth, S...	OMIM:619989
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation, Non-midline cleft of the upper lip	ORPHA:1995
Genitopalatocardiac Syndrome	Downturned corners of mouth, Downslanted palpebral fissures, Micrognathia, Cryptorchidism, Male p...	ORPHA:2075
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Increased muscle lipid content, Elevated circulati...	OMIM:500009
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Delayed skeletal maturation, Recurrent otitis media, Nail dystrophy, Absent eyelas...	OMIM:618625
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Intrauterine growth retardation,...	ORPHA:1913
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Short palpebral fissure, Dental crowding, Cleft upper lip, Umbilical hern...	OMIM:612582
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Genu valgum, Disproportion...	OMIM:253200
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Familial Osteodysplasia, Anderson Type	Tooth malposition, Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, ...	ORPHA:2769
Gómez-López-Hernández Syndrome	Low-set ears, Toenail dysplasia, Anteverted nares, Alopecia of scalp, Turricephaly, Brachycephaly...	ORPHA:1532
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:263501
Sotos Syndrome	Low-set ears, Small nail, Genu valgum, High palate, Macrotia, High, narrow palate, Sparse eyebrow...	OMIM:117550
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, High anterior hairline, Abnormality of nail color, Delayed skeletal...	ORPHA:3220
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia ...	ORPHA:2369
Scarf Syndrome	Wide nasal base, Webbed neck, Abnormal form of the vertebral bodies, Long philtrum, Umbilical her...	ORPHA:3134
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Low-set ear...	OMIM:104350
Elsahy-Waters Syndrome	Low-set ears, High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Th...	OMIM:211380
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Twelfth rib hypoplasia, Micrognathia, Molar tooth sign on MRI, Cerebella...	ORPHA:397715
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis	ORPHA:848
Joubert Syndrome 22	Postaxial foot polydactyly, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Microphthal...	OMIM:615665
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Anisospondyly, Delayed eruption of teeth, Hearing i...	ORPHA:2484
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Elevated gamma-glutamyltransf...	OMIM:227810
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joi...	OMIM:619692
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth...	ORPHA:93352
Laron Syndrome	Severe short stature, Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth,...	ORPHA:633
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Prominent occi...	ORPHA:577
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Prominent nose, Prominent nasal bridge...	OMIM:302350
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Depressed nasal bridge, Shallow acetabular fossae, Broad nasal tip, Lumbar hyperlo...	ORPHA:1830
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	OMIM:182900
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa v...	OMIM:601370
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac...	ORPHA:776
Dysostosis, Stanescu Type	Carious teeth, Short neck, Increased bone mineral density, Hypoplasia of the maxilla, Narrow nasa...	ORPHA:1798
Gingival Fibromatosis-Progressive Deafness Syndrome	Sensorineural hearing impairment, Gingival fibromatosis, Delayed eruption of teeth, Gingival over...	ORPHA:2027
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c...	ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iie	Short palpebral fissure, Overlapping fingers, Micrognathia, Narrow mouth, Protruding tongue, Upsl...	OMIM:608779
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Hearing impairment, Widely spaced primary t...	ORPHA:90321
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Narrow mouth, Microphthalmia, Anal atresia, Abnormal external ...	ORPHA:3469
Cohen Syndrome	Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism...	ORPHA:3103
De Barsy Syndrome	Low-set ears, Postnatal growth retardation, Narrow mouth, Bilateral sensorineural hearing impairm...	ORPHA:2962
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fi...	ORPHA:52
Anauxetic Dysplasia 3	Platyspondyly, Depressed nasal bridge, High anterior hairline, Sparse scalp hair, Plagiocephaly, ...	OMIM:618853
Icf Syndrome	Umbilical hernia, Micrognathia, Protruding tongue, Epicanthus, Macroglossia, Communicating hydroc...	ORPHA:2268
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Open bite, Ankyloglossia, Micr...	ORPHA:1507
Hallermann-Streiff Syndrome	Natal tooth, Sparse body hair, Micrognathia, Narrow mouth, Sparse eyelashes, Microphthalmia, Spar...	ORPHA:2108
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Micrognathia, Death in childhood, Dislocated radial head, Hip dislocation, Bilatera...	OMIM:610758
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:277700
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Rhizomelia, Long philtrum, Cryptophthalmos, Long eyelashes, Anophthalmia, 2-3...	OMIM:615877
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Abnormal ...	ORPHA:2314
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Telecanthus, Non-midline cleft of the upper lip	ORPHA:2007
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Joubert Syndrome 37	Wide nasal bridge, Low-set ears, Lumbar hyperlordosis, Anteverted nares, Wide nose, Joint hypermo...	OMIM:619185
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Postaxial polydactyly, Beaten bron...	OMIM:614500
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Encephalocele, Ta...	OMIM:619148
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Micrognathia, Epicanthus, 2-3 finger syndactyly, Blepharophimosis, ...	ORPHA:435638
Kbg Syndrome	Low posterior hairline, Short neck, Widely-spaced maxillary central incisors, Macrotia, Vertebral...	OMIM:148050
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Frontorhiny	Iris coloboma, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephaloc...	ORPHA:391474
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Postnatal growth retardation, Micrognathia, Narrow mouth, Short neck, Abnormality o...	ORPHA:251028
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:312150
Microgastria-Limb Reduction Defect Syndrome	Elbow dislocation, Esophagitis, Amelia, Anophthalmia, Perineal fistula, Abnormal metacarpal morph...	ORPHA:2538
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl...	ORPHA:324575
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Microphthalmia, Lenz Type	Abnormality of the dentition, Webbed neck, Delayed eruption of teeth, Hearing impairment, Camptod...	ORPHA:568
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Joint contracture of the hand, Narrow mouth, Sensorineural hearing impairment, Coro...	OMIM:235510
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Ca...	ORPHA:2990
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Severe short stature, Failure of eruption of permanent te...	ORPHA:3238
Focal Dermal Hypoplasia	Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Microphthalmia, Iris colobo...	ORPHA:2092
Neu-Laxova Syndrome	Bifid uvula, Micromelia, Hypogonadism, Pterygium, External genital hypoplasia, Micrognathia, Subm...	ORPHA:2671
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Abnormal calvaria morphology, Cuboid-shaped thoracolumbar vertebral bodies, De...	ORPHA:3079
Microphthalmia, Syndromic 2	Anophthalmia, Laterally curved eyebrow, Contracture of the proximal interphalangeal joint of the ...	OMIM:300166
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Frontofacionasal Dysplasia	Tessier cleft, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Absent inner eyelashes, Encepha...	ORPHA:1791
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Polydactyly, Macular hypopigmentation, Rod-cone dystrophy	OMIM:617119
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, General...	ORPHA:800
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Micrognathia, Spina bifida, Ablepharon, High palate, Rocker bo...	OMIM:616038
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Widely spaced teeth, Hyper...	OMIM:601216
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:232220
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Dela...	OMIM:618392
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun...	OMIM:167730
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of th...	ORPHA:2619
Developmental And Epileptic Encephalopathy 100	Small hand, Short palpebral fissure, Elbow flexion contracture, Gingival overgrowth, Tented upper...	OMIM:619777
Humero-Radial Synostosis	Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the th...	ORPHA:3265
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, High anterior hairline, Scoliosis, Broad nasal tip, Recurrent upper respiratory ...	ORPHA:284180
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Monosomy 9Q22.3	Low-set ears, Delayed eruption of teeth, Long philtrum, Abnormality of the vertebral column, Umbi...	ORPHA:77301
Laurence-Moon Syndrome	Small scrotum, Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the han...	OMIM:245800
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Toenail dysplasia, Small nail, Abnormal fingernail m...	ORPHA:952
Maxillonasal Dysplasia	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Tooth agenesis, Open bi...	ORPHA:1248
Duplication Of The Pituitary Gland	Retrognathia, Brachyturricephaly, Hearing impairment, Abnormal odontoid process morphology, Encep...	ORPHA:314621
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Highly arched eyebrow, Elbow flexion contracture, Furrowed tongue, Li...	OMIM:615065
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the humerus, Synostosis of carpal bones, Camptodactyly ...	ORPHA:1836
Multiple Pterygium Syndrome, Escobar Variant	Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus, Short neck, Thoracolum...	OMIM:265000
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Postnatal growth retardation, Anteverted nares, Micrognathia, Epiphyseal s...	OMIM:619135
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:612653
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Frontal bossing, Low-set, posteriorly rotated ears, Microg...	ORPHA:1926
Solitary Median Maxillary Central Incisor	Choanal atresia, Anosmia, Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Midnasal...	OMIM:147250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Osteoporosis, Short neck, Scoliosis, Joint hypermobility	OMIM:616033
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Hearing impairment, Increased susceptib...	OMIM:610968
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture...	ORPHA:93315
Trisomy 1Q	Aplasia/Hypoplasia of the nails, Depressed nasal bridge, Low-set ears, Microretrognathia, Camptod...	ORPHA:261344
Glycogen Storage Disease Xii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch...	OMIM:611881
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, Oligodontia, Thin upp...	OMIM:616331
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Choanal atresia, Depressed nasal bridge, Delayed eruption...	ORPHA:87
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
Warburg Micro Syndrome 3	Downturned corners of mouth, Hypertrichosis, Macrotia, Postnatal growth retardation, Secondary mi...	OMIM:614222
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Craniometaphyseal Dysplasia, Autosomal Recessive	Wide nasal bridge, Depressed nasal ridge, Facial hyperostosis, Nasal congestion, Delayed eruption...	OMIM:218400
Recon Progeroid Syndrome	Dental crowding, Growth delay, Underdeveloped nasal alae, Hyperconvex thumb nails, Anteverted nar...	OMIM:620370
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Plagiocephaly, Diastema, Carpal synostosis, Microdontia, Radioulnar synost...	OMIM:605282
Liang-Wang Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618729
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Downturned corners of mouth, Cryptorchidism, Protruding tongue, Everted lo...	ORPHA:96147
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Low anterior hairline, Microcephaly, Brachycephaly, Short neck, Short stature	ORPHA:320385
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2077
Arthrogryposis, Distal, Type 12	Low-set ears, Ankle flexion contracture, Dental crowding, Thoracic kyphosis, Knee flexion contrac...	OMIM:620545
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the v...	ORPHA:93262
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Charge Syndrome	Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Absent radius, Bilateral t...	OMIM:214800
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Abnormal thumb morphology,...	ORPHA:2511
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Toe syndactyly, Elbow flexion contracture, Hip contracture, Knee flexion contracture, 2-3 toe syn...	OMIM:616809
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Frontotemporal hypertrichosis, Retrognathia, Underdeveloped nasal alae, Large flesh...	OMIM:263210
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Cranial hyperostosis, Sparse eyelashes, Oligodont...	OMIM:601345
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Copper beaten skull, Hearing impairmen...	OMIM:619451
Ring Chromosome Y Syndrome	Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater...	ORPHA:261529
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Potocki-Shaffer Syndrome	Broad nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Parietal foramina, Depre...	ORPHA:52022
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Tessier cleft, Cleft upper lip, Micrognathia, Narrow mouth, 2-3 toe syndactyly,...	OMIM:239800
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypopla...	OMIM:603671
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver...	OMIM:619227
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Hearing impairment, Short neck, High palate, Macrotia, Flat occiput, Wide nose, Hyp...	ORPHA:505237
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Rhizomelia, Plagiocephaly, Long philtrum, Macrocephaly, Micrognathia, Limited ...	OMIM:618821
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hearing impairment, Anophthalmia, Hydrocephalus, Hemivertebrae, Mi...	ORPHA:77298
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, C...	ORPHA:79345
Hemifacial Microsomia With Radial Defects	Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ...	OMIM:141400
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Wide nasal bridge, Carious teeth, Rickets,...	OMIM:277440
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Growth delay, Thick eyebrow, Microcephaly, Everted lower lip vermilio...	OMIM:617768
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Overlapping toe, Cryptorchidism, Talipes equinovarus, Epicanthus, Pes planus, Ble...	OMIM:601808
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndac...	OMIM:225060
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Microphallus, Bifid scrotum, Ectrodactyly, Small placenta, Micrognathia, Abnorm...	ORPHA:397590
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Optic atrophy, Broad thumb, S-shaped palpebral fissures, Cleft up...	OMIM:201180
Zimmermann-Laband Syndrome 1	Low-set ears, Small nail, Hearing impairment, High palate, Gingival fibromatosis, Hyperextensibil...	OMIM:135500
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Micrognathia,...	ORPHA:1143
Taurodontism	Taurodontia	OMIM:272700
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Multicystic kidney dysplasia, Fibular aplasia, Arachnodactyly, Tal...	OMIM:300373
Nance-Horan Syndrome	Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Protruding ear, Microphthal...	ORPHA:627
Thomas Syndrome	Cleft palate, Cleft upper lip, Downslanted palpebral fissures	ORPHA:3316
Holoprosencephaly 13, X-Linked	Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hearing impairment, Thoracic...	OMIM:301043
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,...	ORPHA:1517
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Mi...	ORPHA:3191
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry...	OMIM:256520
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Macroglossia	ORPHA:1423
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Long eyelashes, Spli...	ORPHA:2008
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Hypoplastic labia majora, Dislocated radial head, High palate, Hypo...	OMIM:122470
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocation, Micromelia, Short fi...	ORPHA:628
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal dental morphology, Malar prominence, Micrognathia, Microcephaly, Short nec...	ORPHA:2522
Marshall Syndrome	Platyspondyly, Bifid uvula, Macrodontia of permanent maxillary central incisor, Depressed nasal b...	OMIM:154780
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Small nail, Macrotia, Trichorrhexis nodosa, Anteverted nares, Microphthalmia, Nail ...	OMIM:234050
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Hypospadias, Cone-shaped epiphysis, Short...	OMIM:618659
Otopalatodigital Syndrome, Type I	Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Dislocated radial head, Hip dis...	OMIM:311300
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot	OMIM:183700
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Downslanted palpebral fissures, Micrognathia, Eyelid ...	ORPHA:246
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Bilateral single tra...	ORPHA:199
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,...	OMIM:608836
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Cervical kyphosis, Rhizomelia, Elbow dislocati...	OMIM:108721
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low-set ears, Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Low posterior hair...	OMIM:617360
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Fine hair, Death in infancy, Microcephaly, Macrotia	OMIM:272300
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Postnatal growth retardation, Micrognathia, Prominent nasal tip, Short nose, ...	ORPHA:439822
Fontaine Progeroid Syndrome	Small scrotum, Aplastic/hypoplastic lacrimal glands, Micrognathia, Narrow mouth, Protruding tongu...	OMIM:612289
3Mc Syndrome	Caudal appendage, Umbilical hernia, Radioulnar synostosis, Prominent coccyx, Limited pronation/su...	ORPHA:293843
Parietal Foramina 1	Cleft palate, Encephalocele, Cleft upper lip	OMIM:168500
Scarf Syndrome	Lambdoidal craniosynostosis, Webbed neck, Coronal craniosynostosis, Wide nasal bridge, Low-set ea...	OMIM:312830
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab...	OMIM:253290
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Epicanthu...	OMIM:305450
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Talipe...	OMIM:154400
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Glass Syndrome	Low-set ears, Micrognathia, Narrow mouth, Long nose, High palate, Sparse hair, Pierre-Robin seque...	OMIM:612313
Acrorenal-Mandibular Syndrome	Low-set ears, Absent nipple, Abnormal sacral segmentation, Elbow flexion contracture, Scaphocepha...	OMIM:200980
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Developmental And Epileptic Encephalopathy 41	Microcephaly, Flexion contracture, Delayed eruption of teeth, Kyphoscoliosis	OMIM:617105
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis	OMIM:614602
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, D...	OMIM:619143
Ring Chromosome 10 Syndrome	Wide nasal bridge, Low-set ears, Long philtrum, Large earlobe, Intrauterine growth retardation, M...	ORPHA:1438
Syndromic X-Linked Intellectual Disability 7	Short stature, Tooth malposition, Abnormal dental morphology, Sparse body hair	ORPHA:85274
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Postnatal growth retardati...	OMIM:300867
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Gingival overgrowth, Micrognathia, Pto...	ORPHA:2013
3Mc Syndrome 1	Short 5th finger, Highly arched eyebrow, Epicanthus inversus, Cleft lip, Dental crowding, Caudal ...	OMIM:257920
Griscelli Syndrome	Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:381
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Frontal bossing, Bulbous nose, Macr...	OMIM:613174
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormality of the nose, Sparse body hair, Abnormal dental morphology, Abnormal toenail morpholog...	ORPHA:1818
Noonan Syndrome 13	Low-set ears, Recurrent otitis media, Micrognathia, Low posterior hairline, Generalized hirsutism...	OMIM:619087
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Broad thumb, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Congenital Vertical Talus	Abnormality of the foot musculature, Myelomeningocele, Equinus calcaneus, Pes valgus, Pes planus,...	ORPHA:178382
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Low-set ears, Broad nasal tip, Plagiocephaly, Retrog...	OMIM:617808
Joubert Syndrome 9	Scoliosis, Encephalocele, Molar tooth sign on MRI	OMIM:612285
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Highly arched eyebrow, Plagiocephaly, Umbilical hernia, Recurrent otitis media, Ant...	OMIM:617751
Deeah Syndrome	Low-set ears, Hearing impairment, Narrow mouth, Death in childhood, Low posterior hairline, Short...	OMIM:619004
C Syndrome	Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar deviation o...	OMIM:211750
Pallister-Hall Syndrome	Small scrotum, Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Hydrometrocolpos, Polydac...	ORPHA:672
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Eve...	ORPHA:534
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f...	ORPHA:2928
Acrocephalopolydactyly	Genu recurvatum, Epicanthus, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Hypoplastic fingernail, Hypoplastic fifth fingernail, Micrognathia, Open m...	OMIM:619356
Oculocerebrofacial Syndrome, Kaufman Type	Clitoral hypertrophy, Micrognathia, Arachnodactyly, Epicanthus, Absent eyebrow, Blepharophimosis,...	ORPHA:2707
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, I...	ORPHA:1553
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Cleidocranial Dysplasia 1	Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed pubic bone ossification, Dela...	OMIM:119600
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidism, Polydactyly, Syringomyel...	ORPHA:531151
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Hearing impairment, Abnormal...	ORPHA:485
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Fine hair, Thick lower lip vermilion, Frontal bossing, Tented upper lip vermi...	OMIM:615828
Branchiooculofacial Syndrome	Micrognathia, Cryptorchidism, Anophthalmia, Microphthalmia, Iris coloboma, Hypospadias, Preaxial ...	OMIM:113620
Osteogenesis Imperfecta, Type Xix	Osteopenia, Pectus carinatum, Rhizomelia, Vertebral wedging, Bowing of the arm, Biconcave vertebr...	OMIM:301014
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Alopecia, Growth delay, Delayed skeletal maturation, Long eyelashes...	ORPHA:3363
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Talipes equinovarus, Hydroc...	OMIM:612284
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Chorioretinal coloboma, Ptosis, Retinal detachment, Microphthalmia, Iris coloboma	ORPHA:1473
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Low-set ears, Depressed nasal bridge, Long philtrum, Anteverted nares, Tented upper lip vermilion...	OMIM:620001
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S...	ORPHA:168555
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Spondylocarpotarsal Synostosis Syndrome	Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, Sensorineural hearing i...	OMIM:272460
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Short palpebral fissure, Downturned corners of mouth, Downslanted palpebr...	OMIM:614230
Desanto-Shinawi Syndrome	Depressed nasal bridge, Downturned corners of mouth, Hearing impairment, Bulbous nose, Thick eyeb...	OMIM:616708
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal syst...	ORPHA:2220
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Palmoplantar keratoderma, Ankyloblepharon, Selective tooth agenesis, Cl...	OMIM:106260
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Type II diabetes...	OMIM:269200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Micrognathia, Decreased skull ossification, Short neck, Multiple...	OMIM:616897
Emanuel Syndrome	Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, High p...	ORPHA:96170
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Dental crowding, Low anterior hairline, Microcephaly, Brachycephaly, Short neck, Short stature	OMIM:615031
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic...	ORPHA:231736
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Brachydactyly, Hydrocephalus, Micr...	OMIM:602361
Aromatase Deficiency	Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Enlarged polycy...	ORPHA:91
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Tooth agenesis, Euryblepharon, Distichiasis, Cutaneous syndactyly, Ectr...	OMIM:617681
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion	OMIM:118100
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Micrognathia, Lar...	OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Congenital hip dislocation, Delayed skeletal maturation, Umbilical hernia, Frontal ...	OMIM:219150
Curry-Jones Syndrome	Anal stenosis, Broad thumb, Lip pit, Intestinal pseudo-obstruction, Preaxial hand polydactyly, 3-...	OMIM:601707
Baller-Gerold Syndrome	Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Perineal fistula, Aphalangy of t...	OMIM:218600
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con...	ORPHA:199306
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Recurrent otiti...	OMIM:602849
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Delayed skeletal maturation, Wormian bones...	OMIM:614450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Argininosuccinic Aciduria	Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ...	OMIM:207900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Preaxial polydactyly, Overlapping toe, Micrognathia, Overlapping fingers, ...	OMIM:618142
Microcephaly 26, Primary, Autosomal Dominant	Prominent eyelashes, Long philtrum, Gingival overgrowth, Protruding tongue, Upslanted palpebral f...	OMIM:619179
Bent Bone Dysplasia Syndrome 1	Low-set ears, Coronal craniosynostosis, Abnormally large globe, Natal tooth, Micrognathia, Gingiv...	OMIM:614592
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypopl...	ORPHA:2491
Culler-Jones Syndrome	Cleft upper lip, Hypogonadism, Cryptorchidism, Postaxial polydactyly, Micropenis, Cleft palate	OMIM:615849
Jacobsen Syndrome	Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Talipes, Epicanthus, Pes planus, ...	ORPHA:2308
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum...	OMIM:619377
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Ohdo Syndrome, X-Linked	Small scrotum, Clinodactyly, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, Long th...	OMIM:300895
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Myelomeningocele, Telecanthus, Thick eyebrow, Aplasia of the vagi...	OMIM:193500
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:305100
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Depressed nasal ridge, Abnormal form of the vertebral bodies, Delay...	ORPHA:1837
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Short palpebral fissure, Highly arched eyebrow, Downslanted palpebral fissures, Tent...	OMIM:618622
Dubowitz Syndrome	Hearing impairment, Delayed cranial suture closure, Postnatal growth retardation, Micrognathia, A...	ORPHA:235
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Alopecia-Intellectual Disability Syndrome	Alopecia, Growth delay, Hearing impairment, Delayed skeletal maturation, Sparse body hair, Macrot...	ORPHA:2850
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Talipes calcaneovalgus, Brainstem dysplasia, Adducted thumb, Brachydactyly, ...	ORPHA:444051
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Shoulder dislocation, Umbilical hernia, Thoracic scoliosis, Cerv...	OMIM:618000
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology...	ORPHA:457083
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ...	OMIM:259440
Pseudohypoparathyroidism, Type Ia	Depressed nasal bridge, Delayed eruption of teeth, Thickened calvaria, Short neck, Subcutaneous o...	OMIM:103580
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Orofacial Cleft 15	Sparse eyebrow, Palate fistula, Cryptorchidism, Single transverse palmar crease, Bilateral cleft ...	OMIM:616788
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, White hair, Premature graying of hair, Sparse h...	ORPHA:1775
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Coffin-Siris Syndrome	Wide nasal base, Small nail, Hearing impairment, Postnatal growth retardation, Hypoplastic fifth ...	ORPHA:1465
Methanol Poisoning	Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus	ORPHA:31825
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short...	OMIM:156510
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Kyphosis, Bulbous nose, Microdontia, Hyperconvex nail, Bifid tongue, S...	OMIM:258850
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616649
Juvenile Paget Disease	Pectus carinatum, Optic atrophy, Coarse metaphyseal trabecularization, Abnormal clavicle morpholo...	ORPHA:2801
Lumbar Syndrome	Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M...	ORPHA:83628
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Absent eyelashes, Low post...	OMIM:115150
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Delayed cranial suture closure, Open bite, Prominent crus of he...	ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Short neck, Abnormal pinna morphology, Hyperextensibility of the finger joints, High, narrow pala...	OMIM:309583
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Bainbridge-Ropers Syndrome	Low-set ears, Supernumerary nipple, Micrognathia, Everted lower lip vermilion, High palate, Spars...	OMIM:615485
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Microphthalmia, Cleft palate, Synop...	ORPHA:261272
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Gonadal dysgenesis, male, Hypospadias, Cleft palate	OMIM:231060
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic...	OMIM:614564
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Micrognathia, Abnormal femur...	ORPHA:93329
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Depressed nasal bridge, Optic nerve hypoplasia, Hearing impairment, Bulbou...	OMIM:618828
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Fraser Syndrome	Atresia of the external auditory canal, Anophthalmia, Encephalocele, Microphthalmia, High palate,...	ORPHA:2052
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Degcags Syndrome	Toe syndactyly, Micrognathia, Genu valgum, Protruding tongue, Cryptorchidism, Talipes equinovarus...	OMIM:619488
Branchio-Oculo-Facial Syndrome	Upper lip pit, Tooth agenesis, Preaxial hand polydactyly, Upslanted palpebral fissure, Microdonti...	ORPHA:1297
Marden-Walker Syndrome	High, narrow palate, Low-set ears, Joint contracture of the hand, Congenital contracture, Long ph...	OMIM:248700
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Macular atrophy, Polydactyl...	OMIM:615994
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Alopecia, Dental crowding, Cupped ear...	OMIM:616367
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Talip...	OMIM:616145
Diaphanospondylodysostosis	Low-set ears, Webbed neck, Depressed nasal ridge, Unossified sacrum, Depressed nasal bridge, Trac...	OMIM:608022
Shashi-Pena Syndrome	Low-set ears, Highly arched eyebrow, Broad nasal tip, Cupped ear, Retrognathia, Hypertrichosis, L...	OMIM:617190
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Eczematoid dermatitis, Increased circu...	OMIM:619802
Kleefstra Syndrome	Limitation of joint mobility, Hearing impairment, Supernumerary nipple, Everted lower lip vermili...	ORPHA:261494
Joubert Syndrome 39	Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture of the 5th finger, Posta...	OMIM:619562
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Lower limb asymmetry, Long philtrum, Umbilical hernia, Micrognathia, Abnormal scro...	ORPHA:2505
Fibrochondrogenesis 1	Hypoplastic ischia, Platyspondyly, Small hand, Hypoplastic scapulae, Joint contracture of the han...	OMIM:228520
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Rib fusion, Syringomyelia, Hand poly...	ORPHA:261197
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Micrognathia, Abnormal toenail morphology, Low posterior hairlin...	OMIM:212720
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Persistence of primary teeth, Increased susceptibil...	OMIM:619752
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:66628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Short n...	OMIM:271640
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Micrognathia, Protruding tongue, Epicanthus	OMIM:242860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Low posterior hairline, Radioulnar synosto...	OMIM:245600
Emanuel Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Delayed eruption of prima...	OMIM:609029
Lamb-Shaffer Syndrome	Broad nasal tip, Micrognathia, Mild postnatal growth retardation, Microcephaly, Fused cervical ve...	ORPHA:530983
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Dental crowding, Synostosis of carpal bones, Micromelia, Downs...	ORPHA:3121
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Iris coloboma, Short thumb, Downslanted palpebral fissures, Overlapping toe,...	ORPHA:436003
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral hypoplasia, Postnatal growth retardation, Butterfly vertebrae, Ano...	OMIM:206900
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Thick upper lip verm...	OMIM:619320
Diprosopus	Abnormality of retinal pigmentation, Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Gingival overgrowth, Protruding tongue, Almond-shaped palpebral fissure, Long palp...	OMIM:620352
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Craniofrontonasal Syndrome	Axillary pterygium, Abnormality of the dentition, Toe syndactyly, 3-4 finger syndactyly, Broad ha...	OMIM:304110
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Finger syndactyly, Camptodactyly of fi...	ORPHA:284160
Trichothiodystrophy 3, Photosensitive	Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Trichorrhexis nodosa, Trigonocephal...	OMIM:616395
Desbuquois Syndrome	Genu recurvatum, Depressed nasal bridge, Severe short stature, Disproportionate short-limb short ...	ORPHA:1425
Pseudoprogeria Syndrome	Cranium bifidum occultum, Alopecia, Sparse eyebrow, Joint stiffness, Narrow nasal tip, Absent eye...	ORPHA:2985
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Teebi-Shaltout Syndrome	Low-set ears, Caudal appendage, Narrow mouth, Microphthalmia, Sparse hair, High, narrow palate, B...	OMIM:272950
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow movement, ...	OMIM:300280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Depressed nasal ridge, Low-set ears, Rhizomelia, Macrocephaly, Intrauterine growth...	OMIM:300863
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Low-set ears, Pursed lips, Micrognathia, Narrow mouth, Short neck, High palate, Macrotia, Enlarge...	ORPHA:562528
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Ankyloglossia, Micrognathia, Senso...	OMIM:619841
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Clinodactyly, Downslanted palpebral fissures, Micrognathia, Open mouth, ...	OMIM:613604
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Juvenile Sialidosis Type 2	Optic atrophy, Umbilical hernia, Cherry red spot of the macula, Gingival overgrowth, Protruding t...	ORPHA:93399
Craniofacial Microsomia 2	Dermal sinus tract	OMIM:620444
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Secondary microcephaly, Narrow mouth, Frontal upswee...	OMIM:608156
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Coloboma, Microphthalmia	OMIM:274270
Seckel Syndrome 1	Ivory epiphyses, Clitoral hypertrophy, Micrognathia, Cryptorchidism, Talipes, Pes planus, Blephar...	OMIM:210600
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mu...	ORPHA:207
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital bilateral ptosis, Arachnodactyly, 2-3 f...	ORPHA:1692
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Micromelia, Metap...	OMIM:608728
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Epicanthus, Holoprosencephaly, Short foot, Short t...	OMIM:269860
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Neonatal short-limb short stature, Kyphosis, Hearing impairment, Dispr...	OMIM:259420
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Pentasomy X	Wide nasal bridge, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Mic...	ORPHA:11
Vitamin K Antagonist Embryofetopathy	Choanal atresia, Depressed nasal bridge, Hearing impairment, Myelomeningocele, Punctate vertebral...	ORPHA:1914
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Low-set, posteriorly rotated ears, Plagiocephaly, Enlarged naris, Elbow flexio...	ORPHA:371364
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Bulbous nose, Intrauterine growth retardation, Micrognathia, Microcephaly, Apl...	ORPHA:261304
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Cerebellar dysplasia, Overlap...	OMIM:616531
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Microcephaly, Brachycephaly, Hip subluxation, Scoliosis, Reduced bon...	OMIM:620200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Wide nasal bridge, Frontal balding, Retrognathia, Long philtrum, Contracture...	ORPHA:96092
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Micromelia, Clubbing of fingers, Broad long bones, Pterygium, Micrognathia, Nar...	ORPHA:1865
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinova...	OMIM:180849
Joubert Syndrome 30	Cerebellar atrophy, Molar tooth sign on MRI, Postaxial hand polydactyly, Superior cerebellar dysp...	OMIM:617622
Stevenson-Carey Syndrome	Low-set ears, Joint contracture of the hand, Downturned corners of mouth, Underdeveloped nasal al...	OMIM:611961
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Depressed nasal ridge, Sparse body hair, Abnormal fingernail morpho...	ORPHA:1810
Char Syndrome	Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Supernumerary nipple, Agenesis...	ORPHA:46627
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ...	ORPHA:276556
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Hip dislocation, Thin metacarpal cortices, Kyphoscoliosis, Joint hypermobility, Sy...	OMIM:616507
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Micrognathia, Spina bifida, Death in infancy	ORPHA:99742
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:179494
Progeroid Syndrome, Petty Type	Tooth agenesis, Abnormal hair morphology, Umbilical hernia, Low-set, posteriorly rotated ears, Th...	ORPHA:2963
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Chromosome 16Q22 Deletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Low-set ears, Growth delay, Pos...	OMIM:614541
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl...	OMIM:608594
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Bohring-Opitz Syndrome	Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Epicanthus, Dislocated radia...	OMIM:605039
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Downturned corners of mouth, Umbilical hernia, Bulbous nose, Sparse hair, Wi...	OMIM:273390
Walker-Warburg Syndrome	Bifid uvula, Optic atrophy, Retinal dysplasia, Abnormal optic nerve morphology, Microphthalmia, C...	ORPHA:899
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Seckel Syndrome 2	Microglossia, Micrognathia, Microdontia, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias	OMIM:606744
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Horizontal eyebrow, Thick eyebrow, Gingival overgrowth, Protruding tongue, Wide mouth	OMIM:618797
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Hypogonadism, Decreased testicular size, External genital hypopla...	ORPHA:3041
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Laurence-Moon Syndrome	Type II diabetes mellitus, Congenital hepatic fibrosis	ORPHA:2377
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones, Micrognathia,...	OMIM:224400
Wieacker-Wolff Syndrome, Female-Restricted	Low-set ears, Hip dislocation, Microretrognathia, Kyphosis, Downturned corners of mouth, Long phi...	OMIM:301041
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, U...	ORPHA:1488
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Depressed nasal bridge, Long philtrum, Umbilical hernia, Anteverted nares, Microgna...	ORPHA:171839
Treacher-Collins Syndrome	Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Absent eyela...	ORPHA:861
Recombinant 8 Syndrome	Abnormality of the dentition, Small scrotum, Downturned corners of mouth, Cleft upper lip, Campto...	ORPHA:96167
6Q25 Microdeletion Syndrome	Long philtrum, Camptodactyly of finger, Downslanted palpebral fissures, External genital hypoplas...	ORPHA:251056
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Broad clavicles, Abnormal form of the vertebral bodies, Carpal osteolysis, Abnormal h...	ORPHA:371428
Osteoglophonic Dysplasia	Low-set ears, Short neck, High palate, Cloverleaf skull, Short nose, Osteopenia, Hypoplasia of th...	OMIM:166250
Osteopenia And Sparse Hair	Osteopenia, Sparse hair, Joint hypermobility	OMIM:259690
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Lumbar ...	ORPHA:2848
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-...	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Open mouth, Sensorineural hearing impairment, Lumbar scoliosis, High palate, Downtu...	OMIM:617796
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthalmia, Short metacar...	ORPHA:85167
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Downslanted palpebral fissures, Cleft soft palate, Micrognathia, Smooth philtrum, Es...	OMIM:614526
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Splenomegaly, Prol...	OMIM:224120
1Q21.1 Microdeletion Syndrome	Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Crypto...	ORPHA:250989
Codas Syndrome	Congenital hip dislocation, Depressed nasal bridge, Hypoplasia of the odontoid process, Crumpled ...	OMIM:600373
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Abnormal metacarpal morphology, Glossoptosis, Cleft palate	ORPHA:166100
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Depressed nasal bridge, Cleft lip, Natal tooth, Frontal bossing, Hamartoma of tongu...	OMIM:617925
Genitopatellar Syndrome	Low-set ears, Delayed eruption of teeth, Fine hair, Long philtrum, Hearing impairment, Prominent ...	ORPHA:85201
Ruijs-Aalfs Syndrome	Delayed skeletal maturation, Premature graying of hair, Elbow flexion contracture, Bulbous nose, ...	OMIM:616200
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing...	OMIM:101200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Aredyld	Generalized hypotrichosis, Mandibular prognathia	OMIM:207780
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab...	ORPHA:1028
Short Syndrome	Wide nasal bridge, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Downturned corne...	OMIM:269880
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Cree Impaired Intellectual Development Syndrome	Bifid scrotum, Downslanted palpebral fissures, Cutaneous finger syndactyly, Cleft soft palate, Mi...	OMIM:606851
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Syngap1-Related Developmental And Epileptic Encephalopathy	Wide mouth, Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Abnormal ton...	ORPHA:544254
Kury-Isidor Syndrome	Low-set ears, Alopecia, Growth delay, Long philtrum, Widely spaced teeth, Hypertrichosis, Frontal...	OMIM:619762
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Microglossia, Retinal dystrophy, Postaxial polysyndactyly of...	OMIM:263520
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Fine hair, Tooth agenesis, Sparse lateral eyebrow, Abnormal dental mor...	ORPHA:3353
Acromicric Dysplasia	Severe short stature, Long philtrum, Thick lower lip vermilion, Delayed skeletal maturation, Abno...	ORPHA:969
Distal Duplication 18Q	Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Camptodactyly of fing...	ORPHA:1716
Seckel Syndrome 5	Clitoral hypertrophy, Selective tooth agenesis, Downslanted palpebral fissures, 11 pairs of ribs,...	OMIM:613823
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul...	ORPHA:470
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Underdeveloped nasal alae, Thick upper lip vermilion, Postnatal growth retarda...	OMIM:611091
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Carious teeth, Postnatal growth retardation, Micrognathia, Sparse eyelashes, Sparse...	OMIM:613026
Myhre Syndrome	Narrow mouth, Cryptorchidism, Blepharophimosis, Hypospadias, Epispadias, Abnormal penis morpholog...	ORPHA:2588
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Camptodactyly of fi...	ORPHA:1101
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Duodenal stenosis, Hypoplastic iliac wing, P...	OMIM:190685
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Ulnar bowi...	OMIM:617866
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi...	OMIM:614886
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,...	ORPHA:79259
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Short neck, Molar tooth sign on MRI...	OMIM:607131
Cat-Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Microphthalmia, Anal atresia, Hip dysplas...	ORPHA:195
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Coronal craniosynostosis, Depressed nasal bridge, Denta...	OMIM:145420
Joubert Syndrome 32	Abnormal cerebellum morphology, Postaxial foot polydactyly, Molar tooth sign on MRI, Postaxial ha...	OMIM:617757
Dubowitz Syndrome	Low-set ears, Carious teeth, Velopharyngeal insufficiency, Postnatal growth retardation, Microgna...	OMIM:223370
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Plagiocephaly, Hearing impairment, Long eyelashes, Micrognathia, Tented u...	OMIM:619833
3Mc Syndrome 2	Highly arched eyebrow, Caudal appendage, Downturned corners of mouth, Cleft upper lip, Downslante...	OMIM:265050
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Molar tooth sign on MRI	OMIM:614970
Fraser Syndrome 1	Clitoral hypertrophy, Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Cryptorchid...	OMIM:219000
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, External genital hypoplasia...	OMIM:615996
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies	ORPHA:1802
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Uncombable hair, Sparse hair	ORPHA:1264
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Encephalocele, Hand polydactyly, Hydrocephalus, Molar tooth sign on...	ORPHA:2318
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Osteopenia, Fifth finger distal phalanx clinodactyly, Broad hallux, Long ha...	OMIM:615923
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Cryptorchidism, Humerora...	ORPHA:2879
Cardioacrofacial Dysplasia 1	Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac...	OMIM:619142
Monosomy 9P	Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Micrognathia,...	ORPHA:261112
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Pan...	ORPHA:280365
Perrault Syndrome 1	Osteoporosis, Talipes equinovarus, Scoliosis	OMIM:233400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Bilateral conductiv...	OMIM:617802
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Missing ribs,...	ORPHA:3186
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Encephalocele, Eyelid coloboma, Talipes equinovarus, Hand polydac...	OMIM:217100
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre...	OMIM:184252
Clark-Baraitser Syndrome	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Large earlobe, ...	OMIM:617752
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Micrognathia, Patellar aplasia, Abnormal antihe...	ORPHA:96061
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Toe syndactyly, Downturned corners of mouth, Lobulated tongue, Post...	OMIM:620107
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Toenail dysplasia, Hearing impairment, Postnatal growth retardation, Short neck, Pr...	OMIM:300966
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Plagiocephaly, Abnormal earlobe morphology, Umbilical hernia, Recurrent ot...	ORPHA:500159
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Growth delay, Delayed eruption of teeth, P...	ORPHA:289176
Angelman Syndrome	Optic atrophy, Precocious puberty in females, Widely spaced teeth, Protruding tongue, Pes valgus,...	ORPHA:72
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Focal Dermal Hypoplasia	Low-set ears, Supernumerary nipple, Absent toenail, Anophthalmia, Brittle hair, Microphthalmia, S...	OMIM:305600
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Intrauterine growth retardation, Micrognathia, Malar flattening, Abnormal antihelix ...	ORPHA:2145
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Chromosome 2P16.1-P15 Deletion Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Se...	OMIM:612513
Hereditary Spherocytosis	Cholelithiasis, Hyperbilirubinemia, Gout, Splenomegaly, Hepatomegaly, Jaundice, Maculopapular exa...	ORPHA:822
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul...	OMIM:203500
Kyphomelic Dysplasia	Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Pterygium...	OMIM:211350
Intermediate Osteopetrosis	Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Corti...	ORPHA:210110
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Microretrognathia, Finger syndactyl...	ORPHA:2994
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, B...	OMIM:309545
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Branchial cyst, Small nail, Atresia of the external aud...	OMIM:620186
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Type II diabetes melli...	OMIM:269700
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue	OMIM:619580
Auriculocondylar Syndrome 2B	Darwin tubercle of helix, Question mark ear, Postnatal growth retardation, Micrognathia, Narrow m...	OMIM:620458
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Micrognathia...	ORPHA:536467
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Umbilical hernia, Downslanted palpebral fissures, Genu valgum, Arachnodac...	ORPHA:1035
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Talipes equinovarus, Tongue at...	ORPHA:496689
Johnson Neuroectodermal Syndrome	Severe short stature, Choanal atresia, Alopecia, Carious teeth, Anosmia, Atresia of the external ...	ORPHA:2316
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Delayed skeletal maturation, U...	ORPHA:2315
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Wor...	OMIM:604757
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic verteb...	OMIM:249420
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit...	OMIM:619487
Rapadilino Syndrome	High, narrow palate, Sparse eyebrow, Aplasia/Hypoplasia of the radius, Absent thumb, Aplasia/Hypo...	OMIM:266280
Diamond-Blackfan Anemia 6	Bifid uvula, Short thumb, Cleft upper lip, Micrognathia, Triphalangeal thumb, Cleft palate	OMIM:612561
46,Xy Sex Reversal 6	Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys...	OMIM:613762
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair, Selective tooth agenesis, Microdontia	OMIM:617073
Cloacal Exstrophy	Intestinal duplication, Abnormal tibia morphology, Intestinal malrotation, Myelomeningocele, Tali...	ORPHA:93929
Camptodactyly Syndrome, Guadalajara, Type Iii	Joint contracture of the hand, Small hypothenar eminence, Short neck, Small thenar eminence, Camp...	OMIM:611929
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Hearing impairment, Anteverted nares, Prominent nasal bridge, Proportionate ...	OMIM:227330
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618067
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Growth delay, ...	OMIM:619269
Craniotelencephalic Dysplasia	Optic atrophy, Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Trichodental Dysplasia	Conical tooth, Fine hair, Hypodontia, Microcephaly, Slow-growing hair, Brittle hair, Sparse hair,...	OMIM:601453
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Microphthalmia	ORPHA:2432
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl...	OMIM:215140
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact...	OMIM:615986
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Micrognathia, Short hard palate, Spina bifida, Clinodactyly of...	ORPHA:1393
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Seve...	OMIM:620639
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hearing impairment, Secondary microcephaly, Micrognathia, Limited elbow movement, Short neck, Hig...	OMIM:610759
Andersen-Tawil Syndrome	Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Low-set ears, Dental ...	ORPHA:37553
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Glycogen Storage Disease Ic	Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipide...	OMIM:232240
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Broad hallux, Long philtrum, Retinal pigment epithelial mottling, Downslanted palpebral fissures,...	OMIM:614105
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Syphilis	Periostitis, Hearing impairment, Hyperplasia of the maxilla, Intrauterine growth retardation, Lar...	ORPHA:499009
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Delayed cranial suture closure, High palate, Sparse hair, Osteopenia...	OMIM:278250
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Micrognathia, High palate, Hypoplasia of the maxilla, Delayed skeletal maturation, ...	OMIM:170390
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Cryptorchidi...	ORPHA:1263
Gaisböck Syndrome	Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia,...	ORPHA:90041
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Abnormality of primary teeth, Ante...	ORPHA:438216
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu...	OMIM:109120
Bardet-Biedl Syndrome 8	Hypogonadism, Postaxial polydactyly, Hypospadias, Rod-cone dystrophy	OMIM:615985
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Short rib...	OMIM:215045
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Cleft palate, Tripha...	ORPHA:2549
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci...	OMIM:609313
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ...	ORPHA:2163
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Pseudohypoparathyroidism Type 1B	Depressed nasal bridge, Delayed eruption of teeth, Increased bone density with cystic changes, Sh...	ORPHA:94089
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Curly hair, Short nose, Hypoplasia of the maxilla, Sparse eyebr...	ORPHA:500150
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C...	ORPHA:474
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Elevated circulating ...	OMIM:230400
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Bifid scrotum, Abno...	ORPHA:887
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Alopecia, Joint dislocation, Abnormal form of the vertebral bodies,...	ORPHA:93160
3Q29 Microduplication Syndrome	Abnormality of the dentition, Toe syndactyly, Sandal gap, Downslanted palpebral fissures, Aniridi...	ORPHA:251038
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Sparse body hair, Abnormal dental m...	ORPHA:1897
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Increased sus...	OMIM:231070
Lissencephaly 7 With Cerebellar Hypoplasia	Downturned corners of mouth, Micrognathia, Death in infancy, Hirsutism, Low anterior hairline, Ne...	OMIM:616342
Slc35A2-Cdg	Abnormal midbrain morphology, Aplasia/hypoplasia involving bones of the extremities, Cerebellar a...	ORPHA:356961
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent cutaneous absce...	ORPHA:47
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Fg Syndrome Type 1	Micrognathia, Open mouth, Frontal upsweep of hair, Sensorineural hearing impairment, Progressive ...	ORPHA:93932
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Sandal gap, Long philtrum, Microphthalmia, Optic disc pallor	OMIM:300887
Adams-Oliver Syndrome 2	Low-set ears, Depressed nasal bridge, Alopecia, Small nail, Bulbous nose, Macrocephaly, Micrognat...	OMIM:614219
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Downslanted palpebral fissures, Median cleft upper lip, High palate, Iris coloboma	OMIM:155145
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Alopecia, Skull asymmetry, Anteverted nares, Malar flattening, Turricephaly, Smooth...	OMIM:601853
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Intestinal malrotation, Umbilical hernia, Micrognathia, Narrow mouth, Cryptorchidism, E...	ORPHA:2166
Joubert Syndrome 40	Postaxial polydactyly, Molar tooth sign on MRI	OMIM:619582
Cockayne Syndrome B	Carious teeth, Dry hair, Limitation of joint mobility, Abnormal hair morphology, Postnatal growth...	OMIM:133540
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Congenital hip dislocation, Sparse eyebrow, Carious teeth, Depressed nasal bridge, ...	OMIM:244450
Leiomyoma Of Vulva And Esophagus	Clitoral hypertrophy	OMIM:150700
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent fingertip pads,...	OMIM:618529
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing...	ORPHA:464738
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Acromicric Dysplasia	Severe short stature, Long philtrum, Thick lower lip vermilion, Delayed skeletal maturation, Bulb...	OMIM:102370
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Low-set ears, Growth delay, Downturned corners of mouth, Long philtrum, Intrau...	OMIM:617333
Holt-Oram Syndrome	Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A...	ORPHA:392
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Thick upper lip vermilion, Low posterior hairline, Short neck, Curly ...	ORPHA:163654
Restrictive Dermopathy 1	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Sparse eyelashes, Absent e...	OMIM:275210
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
X-Linked Intellectual Disability, Abidi Type	Decreased testicular size, Non-midline cleft of the upper lip, Cleft palate	ORPHA:85273
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Carious teeth, Kyphoscoliosis, Hypodontia, Microcephaly, Delayed puberty, Short stature...	OMIM:612079
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Depressed nasal tip, Short stature, Osteolysis involving bones of the upper limbs, Camp...	ORPHA:88630
Grant Syndrome	Depressed nasal bridge, Joint dislocation, Open bite, Micrognathia, Abnormal cortical bone morpho...	ORPHA:2097
Pseudohypoparathyroidism, Type Ic	Depressed nasal bridge, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Short stature, ...	OMIM:612462
Au-Kline Syndrome	Supernumerary nipple, Open mouth, Sensorineural hearing impairment, Thoracolumbar scoliosis, Lipo...	OMIM:616580
Hypochondroplasia	Depressed nasal bridge, Disproportionate short-limb short stature, Macrocephaly, Lumbar hyperlord...	OMIM:146000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Arachnodactyly, Chordee,...	ORPHA:261537
Familial Hyperprolactinemia	Osteoporosis, Osteopenia, Hemorrhagic ovarian cyst	ORPHA:397685
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, ...	ORPHA:1427
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Epicanthus, Hypoplastic ischia, Hypospadias	OMIM:616910
Fryns Syndrome	Hypospadias, Short distal phalanx of finger, Long philtrum, Duodenal atresia, Intestinal malrotat...	ORPHA:2059
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hyperbilirubin...	OMIM:229600
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Toe syndactyly, Downturned corners of mouth, Micromelia...	ORPHA:238750
Congenital Dyserythropoietic Anemia Type Iii	Hyperbilirubinemia, Increased circulating iron concentration, Elevated circulating hepatic transa...	ORPHA:98870
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Micrognathia, Short lingual frenulum, Short hard palate, Short neck, High palate, D...	OMIM:180700
Marbach-Rustad Progeroid Syndrome	Growth delay, Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Dela...	OMIM:619322
Achondrogenesis, Type Ii	Abnormally large globe, Microretrognathia, Disproportionate short-limb short stature, Long philtr...	OMIM:200610
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev...	ORPHA:94086
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas...	OMIM:251270
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Pathologic fracture, Abnormal t...	ORPHA:83468
Xq27.3Q28 Duplication Syndrome	Delayed skeletal maturation, Sparse body hair, Bulbous nose, Intrauterine growth retardation, Thi...	ORPHA:261483
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se...	ORPHA:2789
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Abn...	ORPHA:1422
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis	OMIM:228600
Incontinentia Pigmenti	Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morphology, Microphthalmia, Abno...	ORPHA:464
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim...	OMIM:259710
Macs Syndrome	Wide nasal bridge, Alopecia, Sparse eyebrow, Long philtrum, Umbilical hernia, Macrocephaly, Recur...	OMIM:613075
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:91547
Stuve-Wiedemann Syndrome 1	Wide nasal base, Low-set ears, Carious teeth, Pursed lips, Micrognathia, Short neck, Sparse hair,...	OMIM:601559
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Small hand, Cleft lip, Downturned corners of mouth, Long philtrum, Clinodactyly, San...	OMIM:618089
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Downslanted palpebral fissures, Furrowed tongue, Tented upper lip vermilion...	OMIM:616449
Distal Deletion 13Q	Optic atrophy, Encephalocele, Anencephaly, Aplasia/Hypoplasia of the thumb, Abnormality of the ha...	ORPHA:1590
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Highly arched eyebrow, Broad thumb, Downturned corners of mouth, Diastema, Umbili...	ORPHA:329224
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal...	ORPHA:231226
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c...	ORPHA:1972
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Short distal phalanx of ...	OMIM:620662
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Retrognathia, Long philtrum, Trichorrhexis nodosa, Prominent nose, Ankle clonus, ...	OMIM:619691
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal lower limb bone morphology, Abnormal vitreous humor morphol...	ORPHA:2788
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Epicanthus, Foot polydactyly, Tarsal synostosis, High...	ORPHA:2750
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Skin ras...	ORPHA:292
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg...	OMIM:606003
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Coni...	OMIM:602400
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Jacobsen Syndrome	Chorioretinal coloboma, Micrognathia, Cryptorchidism, Epicanthus, Microphthalmia, Holoprosencepha...	OMIM:147791
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Duodenal stenosis, Camptodactyly of finger, Micrognathia, Microphthalmia, Hypoplasia of penis, Sy...	ORPHA:2547
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Joubert Syndrome 2	Postaxial foot polydactyly, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Abn...	OMIM:608091
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Pectus carinatum, Limitation of joint mobility, Biconcave vertebral bod...	OMIM:236200
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Becker Nevus Syndrome	Hemivertebrae, Scoliosis, Unilateral breast hypoplasia	OMIM:604919
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Occipital encephalocele, Cleft upper lip, Micrognathia, Cryptor...	OMIM:236670
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Optic atrophy, Tethered cord, Abnormality of the vertebral column,...	ORPHA:280
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Low-set ears, Depressed nasal ridge, Plagiocephaly, Conductive hearing impairment, Downturned cor...	OMIM:618672
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Slender long bone, Cleft upper lip, Rod-cone dystrophy, Hydrocele testis, C...	ORPHA:96181
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Umbilical hernia, Overlapping toe, Micrognathia, Cryptorchidism, Retinobl...	OMIM:613884
Wiedemann-Steiner Syndrome	Low-set ears, Recurrent otitis media, Postnatal growth retardation, Contracture of the distal int...	OMIM:605130
Joubert Syndrome 5	Occipital encephalocele, Retinal coloboma, Ptosis, Rod-cone dystrophy, Cleft palate	OMIM:610188
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Microphthalmia, Hypoplastic inferior ilia, Short metacarpal, Optic disc ...	OMIM:608940
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Ankle pain, Limited hip movement, Premature osteoarthritis, G...	ORPHA:93311
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Bilateral cryptorchidism, Smooth philtrum, Epicanthus, Coloboma, Mic...	OMIM:618652
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Abnormality of the fir...	OMIM:135100
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Anencephaly, Talipes,...	ORPHA:1335
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Open mouth, Cryptorchidism, Upslanted palpebral fissure, Talipes equinovarus, Colob...	OMIM:616789
Koolen-De Vries Syndrome	Open mouth, Pear-shaped nose, Everted lower lip vermilion, High palate, Hip dislocation, Macrotia...	OMIM:610443
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Phakomatosis Pigmentokeratotica	Precocious puberty, Hemiatrophy, Cryptorchidism, Coloboma, Spina bifida	ORPHA:2874
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Widely spaced teeth, Mild hearing impairmen...	ORPHA:459061
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, External genital hypoplasia, Postaxial polydactyly, Brachydactyly, Rod-co...	OMIM:600151
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Congenital hip dislocation, Carious teeth, Coarse hair, Long philtrum, Frontal boss...	OMIM:219200
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Encephalocele, Midline facial cleft, Median cleft upper lip, Blephar...	ORPHA:3374
Lethal Congenital Contracture Syndrome Type 1	Webbed neck, Limitation of joint mobility, Abnormal form of the vertebral bodies, Low-set, poster...	ORPHA:1486
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Downturned corners of mouth, Thick upper lip vermilion, Bulbous nose, Dep...	ORPHA:79133
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Protruding ear, Microcephaly, Joint contracture, Narrow palate, Scoliosis, Macrotia	OMIM:617481
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hepatomegaly, Jaun...	OMIM:612714
Renpenning Syndrome	High, narrow palate, Iris coloboma, Macrodontia, Decreased testicular size, Thin eyebrow, Narrow ...	ORPHA:3242
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Depressed nasal bridge, Downturned corners of mouth, Broad columella, Wide...	OMIM:617865
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Epicanthus, Aplasia/Hypoplasia affecting the eye, Diaphysea...	ORPHA:175
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Hearing impairment, Enlarged vertebral pedicles, Narr...	OMIM:139210
Congenital Varicella Syndrome	Micromelia, Microphthalmia	ORPHA:291
Trichothiodystrophy 2, Photosensitive	Short stature, Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair	OMIM:616390
Forsythe-Wakeling Syndrome	Osteoporosis	OMIM:613606
Frontofacionasal Dysplasia	Cranium bifidum occultum, Bifid uvula, Ankyloblepharon, Cleft upper lip, Telecanthus, Absent inne...	OMIM:229400
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Low-set ears, Joint contracture of the hand, Delayed eruption of teeth, Thick ...	OMIM:247200
9P13 Microdeletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Low-set ears, Microretrognathia, Umbilical hernia, Recu...	ORPHA:324313
19P13.12 Microdeletion Syndrome	Low-set ears, Arthrogryposis multiplex congenita, Conductive hearing impairment, Long philtrum, N...	ORPHA:254346
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Tented upper lip ver...	ORPHA:2662
Nephronophthisis 15	Retinal degeneration, Polydactyly	OMIM:614845
Hartsfield Syndrome	Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft upper lip, Ectrodactyly, Cryptorchid...	OMIM:615465
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Thin calvarium, Macrocephaly, Micrognathia, Malar flattening, Wormian bones, Parietal...	ORPHA:85184
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, He...	ORPHA:189427
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Growth delay, Abnormal dental morphology, Hypophosphatemic rickets, Kyphosc...	OMIM:163200
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Hearing impairment...	ORPHA:582
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypop...	ORPHA:79402
Dystonia-Deafness Syndrome 1	Cleft upper lip, Femoral retroversion, Cleft palate, Hypoplastic scapulae	OMIM:607371
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hearing impairment, Delayed cranial suture closure, Micrognathia, Absent eyelashes, Absent eyebro...	ORPHA:85199
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormality of the uterus, Narrow mouth, Polydactyly, Agang...	ORPHA:59315
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Encephalocele, Hand polydactyly, Hydrocephalus, Molar tooth sign on...	ORPHA:220497
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Carious teeth, Hearing impairment, Limited hip move...	ORPHA:93346
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Sparse eyebrow, Sparse lateral eyebrow, Ectrodact...	OMIM:619648
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, External genital hypoplasia, Postaxial polydactyly, Rod-cone dystrophy, V...	OMIM:605231
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Microphthalmia, High...	OMIM:608670
Goldberg-Shprintzen Megacolon Syndrome	Iris coloboma, Sparse eyebrow, Finger syndactyly, Bifid scrotum, Aganglionic megacolon, Ptosis, H...	ORPHA:66629
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Rere-Related Neurodevelopmental Syndrome	Choanal atresia, Hearing impairment, Frontal bossing, Low-set, posteriorly rotated ears, Postnata...	ORPHA:494344
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Highly arched eyebrow, Downturned corners of mouth, Ectopic anus, Aplasia/Hypoplasia of the dista...	ORPHA:94066
Idiopathic Uveal Effusion Syndrome	Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia	ORPHA:209956
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,...	ORPHA:2639
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis	OMIM:616629
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Small nail, Prominent ear helix, Micrognat...	ORPHA:96149
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Very long ch...	OMIM:266510
Acrofrontofacionasal Dysostosis 2	Low-set ears, Wide anterior fontanel, Microcephaly, Brachycephaly, Short stature, Overfolded heli...	OMIM:239710
Arthrogryposis, Distal, Type 3	Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ...	OMIM:114300
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance	ORPHA:140941
Joubert Syndrome 27	Polydactyly, Retinopathy, Thick lower lip vermilion	OMIM:617120
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Three M Syndrome 3	Growth delay, Long philtrum, Anteverted nares, Increased vertebral height, Joint hypermobility, P...	OMIM:614205
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Low posterior hairline, Short neck, Curly hair, High palate, Sparse hair, Wide nose...	OMIM:617506
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Sho...	OMIM:169400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Low-set ears, Micrognathia, Open mouth, Narrow mouth, Low posterior hairline, Everted lower lip v...	OMIM:619720
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou...	ORPHA:3201
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Cebalid Syndrome	Low-set ears, Highly arched eyebrow, Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly...	OMIM:618774
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Prominent fingertip pads, Long philtrum, Anteriorly placed anus, Overlapping...	OMIM:618494
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Small scrotum, Broad thumb, Thumb contracture, Narrow mouth, Joint contracture of the 5th finger,...	ORPHA:324540
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Cl...	OMIM:614838
Image Syndrome	Micromelia, Hypogonadism, Cryptorchidism, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98795
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Short femoral neck, Joint hypermobility, Narr...	OMIM:618395
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Low-set ears, Plagiocephaly, Broad columella, Long philtrum, Delayed cranial s...	OMIM:619383
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Joubert Syndrome 33	Molar tooth sign on MRI, Syndactyly	OMIM:617767
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration...	ORPHA:69087
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Micrognathia, Narrow mouth, Short neck, Macrotia, Short nose, Long eyelashes,...	OMIM:620250
Nephronophthisis 16	Cholestasis, Periportal fibrosis, Enlarged kidney	OMIM:615382
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Severe short stature, Occipital encephalocele, Disproportionate...	OMIM:224410
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, Single transverse palmar crea...	OMIM:300707
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Cupped ear, Retrognathia, Anteverted nares, Micrognathia, Anterior concavity of tho...	OMIM:617101
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Long philtrum, Micrognathia, ...	ORPHA:93328
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Micrognathia, Narrow m...	OMIM:227270
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
2Q23.1 Microdeletion Syndrome	Highly arched eyebrow, Sandal gap, Macrodontia, Tented upper lip vermilion, Open mouth, Cryptorch...	ORPHA:228402
Aicardi Syndrome	Precocious puberty, Optic atrophy, Small hand, Sparse lateral eyebrow, Cleft upper lip, Chorioret...	ORPHA:50
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Acne, Diabetes mellitus	ORPHA:77296
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Macrotia, Low anterior hairline, Brachycephaly, Hig...	OMIM:218000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Frontal bossing...	OMIM:618430
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr...	OMIM:246200
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Talipes equinovarus, Short neck...	ORPHA:233
Mucopolysaccharidosis Type 1	Hearing impairment, Sensorineural hearing impairment, Generalized hirsutism, Everted lower lip ve...	ORPHA:579
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
White-Sutton Syndrome	Low-set ears, Hypoplastic cervical vertebrae, Micrognathia, Sensorineural hearing impairment, Sho...	OMIM:616364
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Hearing impairment, Genu valgum, Intervertebral space narrowing, Narrow verteb...	OMIM:143095
Mucolipidosis Ii Alpha/Beta	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Myelo...	OMIM:252500
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Short thorax, Umbilical hernia, Micromelia, Talip...	ORPHA:93298
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:557000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas...	OMIM:231530
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal maturation, Sparse body...	ORPHA:3068
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Plagiocephaly, Alobar holoprosencephaly, Brachycephaly, High palate, Dolichocephaly...	OMIM:615433
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Hypodontia, Sparse hair, Fine hair, Microdontia	ORPHA:1174
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Scoliosis, Tethered cord	OMIM:612918
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia	ORPHA:28
Atelosteogenesis Type I	Rhizomelia, Telecanthus, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossificati...	ORPHA:1190
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Chordee, Pes planus, Everted lower li...	ORPHA:2152
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Sanjad-Sakati Syndrome	Abnormality of the dentition, Patchy osteosclerosis, Depressed nasal bridge, Long philtrum, Delay...	ORPHA:2323
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Depressed nasal bridge, Low-set ears, Delayed skeletal maturatio...	OMIM:613320
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia...	OMIM:613673
Malan Overgrowth Syndrome	Depressed nasal bridge, Plagiocephaly, Optic disc hypoplasia, Frontal bossing, Scaphocephaly, Nar...	ORPHA:420179
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Long philtrum, Aplasia/Hypopla...	ORPHA:1358
Intellectual Disability-Strabismus Syndrome	Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re...	ORPHA:363528
Heart And Brain Malformation Syndrome	High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Cleft lip, Low-set ears, Growth d...	OMIM:616920
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:617950
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Plagiocephaly, Hearing impairment, Delayed ossification of...	OMIM:620099
Potocki-Shaffer Syndrome	Wide nasal bridge, Sparse lateral eyebrow, Downturned corners of mouth, Underdeveloped nasal alae...	OMIM:601224
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Ol...	OMIM:601701
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin conc...	ORPHA:95716
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, High palate, Chronic otitis media, Flat occiput, Wide nose, Coronal ...	OMIM:614188
Prune1-Related Neurological Syndrome	Low-set ears, Plagiocephaly, Micrognathia, Microcephaly, Scoliosis	ORPHA:544469
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hatipoglu Immunodeficiency Syndrome	Fair hair, Premature graying of hair, Recurrent otitis media, Intrauterine growth retardation, Pr...	OMIM:620331
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Microcephaly, Delayed eruption of teeth	OMIM:615905
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Blepharophimosis, Narrow palpebral fissure, Microp...	OMIM:229850
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dental crowding, Growth delay, Delayed cranial suture closure, Flexion contracture, Sho...	OMIM:608612
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb s...	ORPHA:2347
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Short ribs, Postaxial polydactyly, Ambiguous genital...	OMIM:617895
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Broad nasal t...	ORPHA:1299
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Increased total bilirubin	ORPHA:90037
Focal Facial Dermal Dysplasia Type Iii	Wide nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Downturned corners of mouth, Spa...	ORPHA:1807
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia	ORPHA:2252
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Bilateral ptosis, Overlapping toe, Open mouth, High palate, Cleft palate	OMIM:620021
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Low posterior hairline, Cubitus valgus, Sparse facial hair, Short neck, Hydr...	ORPHA:2183
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma...	ORPHA:2633
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low-set ears, Postnatal growth retardation, Low posterior hairline, Short neck, Finger joint hype...	OMIM:613563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Bifid uvula, Patchy osteosclerosis, Depressed nasal bridge, Long philtrum, Delayed ...	OMIM:241410
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Retinal dystrophy	ORPHA:423479
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Angelman Syndrome Due To A Point Mutation	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:411511
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Congenital hip dislocation, Carious teeth, Coarse hair, Broad nasal tip, Long philt...	ORPHA:357074
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Brachydactyly, Molar tooth sign on MRI,...	OMIM:300804
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte...	OMIM:615222
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Hip contracture, Short neck, Patellar subluxation, Patellar dislocati...	OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bifid uvula, Hearing impairment, Cleft upper lip, Bulbous nose, Anteverted nar...	OMIM:300958
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 to...	OMIM:618727
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost...	OMIM:147891
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:79333
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas...	ORPHA:2746
Osteogenesis Imperfecta	Carious teeth, Hearing impairment, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Decrea...	ORPHA:666
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth, Cryptorchidis...	ORPHA:3301
Jaberi-Elahi Syndrome	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Fine hair, Joint stiffness, Sparse eyelashe...	OMIM:617988
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Long philtrum, Patellar hypoplasia, Abnormal conus terminalis morphology, Gingival overgrowth, Cr...	ORPHA:464288
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentr...	ORPHA:3202
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Thick lower lip vermilion, Persistence of prim...	OMIM:600002
Marshall Syndrome	Thick upper lip vermilion, Micrognathia, Genu valgum, Sparse eyelashes, Sensorineural hearing imp...	ORPHA:560
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Abnormality of the dentition, Osteopenia, Broad nasal tip, Rhizomelia, Small nail, ...	OMIM:614813
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Hypodontia, Delayed puberty, Short stature	ORPHA:289494
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Sparse hair, Enamel hypoplasia, Macrotia	OMIM:613576
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Broad foot, Rod-cone dystrophy, Foot polydactyly, High palate, Short ...	OMIM:209900
Angelman Syndrome	Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth	OMIM:105830
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Flat occiput, Growth delay, ...	OMIM:264700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level ...	OMIM:300908
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Upslanted palpebral fissure, Single transverse palmar crease, Thin u...	OMIM:613443
Moebius Syndrome	Finger syndactyly, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hypoplasia of the thumb...	ORPHA:570
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Absent frontal sinuses, Crowded carpal bon...	OMIM:102500
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Microcephaly, Hy...	OMIM:156610
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Secondary microce...	ORPHA:476126
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Arachnodactyly, Epicanth...	ORPHA:261552
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperos...	OMIM:144750
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Dental malocclusion, Nail dystrophy, Nail dysplasia, Thick vermilion border, Abnorma...	OMIM:601957
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Sensorineural hearing impairment, Ta...	ORPHA:3214
Dihydropyrimidine Dehydrogenase Deficiency	Depressed nasal bridge, Short nail, Delayed eruption of teeth, Retrognathia, Large earlobe, Long ...	ORPHA:1675
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Hypoplastic helices, Plagiocephaly, Dental malocclusion, Hearing impairment, S...	OMIM:619149
Cornelia De Lange Syndrome 6	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Cleft lip, High...	OMIM:620568
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchidism, Abnormal...	OMIM:268300
Hyperbiliverdinemia	Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function	OMIM:614156
Cardiofaciocutaneous Syndrome	Genu valgum, Low posterior hairline, Short neck, Brittle hair, High palate, Sparse hair, Bipariet...	ORPHA:1340
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, Joint stiffness, Bicoron...	OMIM:619184
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl...	ORPHA:2249
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Hyperalan...	OMIM:619064
Trichothiodystrophy 1, Photosensitive	Retrognathia, Fine hair, Small nail, Trichorrhexis nodosa, Macrotia, Tiger tail banding, Nail dys...	OMIM:601675
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Conjunctivitis, Pa...	OMIM:620376
Brachydactyly, Type E2	Short stature, Delayed eruption of teeth, Oligodontia	OMIM:613382
Roifman Syndrome	Prominent eyelashes, Downturned corners of mouth, Long philtrum, Biconvex vertebral bodies, Under...	OMIM:616651
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati...	OMIM:615207
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Lacrimal duct atresia, Hypodontia, Hallux valgus, Spl...	OMIM:603543
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Delayed skeletal ...	OMIM:608154
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial in...	OMIM:183900
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Short ribs, Abnormal vitreous humo...	ORPHA:93296
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Plagiocephaly, Natal tooth, Tracheomalacia, Hearing impairment, Umb...	ORPHA:261652
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ...	OMIM:210200
W Syndrome	Abnormality of the scalp hair, Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvul...	ORPHA:2804
Houge-Janssens Syndrome 2	Broad hallux, Downslanted palpebral fissures, Deviation of the 5th finger, Tented upper lip vermi...	OMIM:616362
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Sacral Defect With Anterior Meningocele	Hydromyelia, Tethered cord, Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hyd...	OMIM:600145
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Postnatal growth retardation, ...	OMIM:135900
Roifman Syndrome	Prominent eyelashes, Downturned corners of mouth, Long philtrum, Biconvex vertebral bodies, Under...	ORPHA:353298
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Tooth agenesis, Fingernail dysplasia, Microdontia, Trichodys...	ORPHA:1660
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi...	ORPHA:2753
Cataract 9, Multiple Types	Iris coloboma, Microphthalmia	OMIM:604219
Melnick-Needles Syndrome	Tooth malposition, Coarse hair, Delayed eruption of teeth, Delayed cranial suture closure, Recurr...	OMIM:309350
Zechi-Ceide Syndrome	Short distal phalanx of finger, Short palpebral fissure, Cleft lip, Downturned corners of mouth, ...	ORPHA:217017
Foveal Hypoplasia 2	Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia	OMIM:609218
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia	ORPHA:100025
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98794
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Cervical spinal canal stenosis, Hip contracture, Knee flexion contract...	OMIM:620232
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Chorioretinal coloboma, Retinal detachment, Macular atrophy, Microphthalmia, Buphthalmos, Iris co...	OMIM:212550
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Smith-Lemli-Opitz Syndrome	Micrognathia, Sensorineural hearing impairment, Short neck, Holoprosencephaly, Biparietal narrowi...	ORPHA:818
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Microdontia, Anodontia, Hypodontia, Sparse eyelashes, Slo...	OMIM:129490
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
3Q29 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Dental crowding, Macrotia, Macrocephaly, Prominent na...	ORPHA:65286
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Epicanthus, Syndactyly, Cleft lip, Downt...	OMIM:616894
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Midline notch of upper alveolar ridge, Finger clinodactyly, Bilateral cryp...	ORPHA:2754
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Azoospermia, Micrognathia, Hypoplasia of the uterus, Bicornuate uterus, Cleft pa...	OMIM:601076
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating hepatic transaminase concentration, Elevated circulating creatinine concentr...	ORPHA:542323
Craniofacial Microsomia 1	Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit...	OMIM:164210
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Death in childhood...	OMIM:309500
Hyperphosphatasia-Intellectual Disability Syndrome	Small nail, Supernumerary nipple, Micrognathia, Short neck, High palate, Abnormal parietal bone m...	ORPHA:247262
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Limb undergro...	ORPHA:1803
Microphthalmia, Syndromic 5	Cryptorchidism, Anophthalmia, Coloboma, Microphthalmia, Micropenis, Retinal dystrophy, Optic nerv...	OMIM:610125
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Hypoplastic thumbnail, Broad nasal tip, Recurrent otitis media, Moderate hearing impairment, Hypo...	ORPHA:370010
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Short...	ORPHA:828
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Small nail, Atresia of the external auditory canal, Narrow mouth, High palate, Clove...	OMIM:123790
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
19Q13.11 Microdeletion Syndrome	Congenital hip dislocation, Growth delay, Retrognathia, Sparse lateral eyebrow, Supernumerary nip...	ORPHA:217346
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Split hand, Shawl scrotum, Micropenis, Hypospadias, Clubbing, Cl...	OMIM:600460
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Increased circulating lactate dehydrogenase concentration, Hyperhomocystinemi...	OMIM:601775
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Sparse eyebrow, Recurrent upper respiratory tract infect...	ORPHA:2399
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Failure to thrive, Decreased liver function	ORPHA:67048
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Sprengel anomaly, Scapular winging, Pectus excavatum, Spina bifida occulta, Sco...	ORPHA:500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Con...	OMIM:608885
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, T...	OMIM:620075
20Q11.2 Microduplication Syndrome	Tented philtrum, Thickened ears, Short nose, Low-set, posteriorly rotated ears, Trigonocephaly, L...	ORPHA:363659
Short Syndrome	Wide nasal bridge, Abnormality of the dentition, Alopecia, Severe short stature, Abnormal mandibl...	ORPHA:3163
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Highly arched eyebrow, Long philtrum, Prominent nose, Tented upper lip vermilion, L...	OMIM:619244
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Narrow chest, Absent...	OMIM:105650
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Butterfly vertebrae, Kyphoscoliosis, Vertebral segment...	ORPHA:263508
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal palate morphology...	ORPHA:2063
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Short hallux, Epicanthu...	OMIM:194190
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal...	ORPHA:231214
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, High palate, Sparse hair, Osteopenia, ...	ORPHA:2834
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Depressed nasal bridge, Lo...	OMIM:615398
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Wolman Disease	Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly	OMIM:620151
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Hip contracture, Thoracic scoliosis, Neonatal death, Achilles tend...	OMIM:620351
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Hypogonadism, Nasolacrimal duct obstruction, Tetra...	OMIM:273400
Larsen Syndrome	Depressed nasal bridge, Short nail, Conductive hearing impairment, Accessory carpal bones, Large ...	ORPHA:503
Rh Deficiency Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia...	ORPHA:71275
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone, Rod-cone dystrophy	OMIM:615633
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/H...	OMIM:192445
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Multiple rib fractu...	ORPHA:93299
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft...	OMIM:610828
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
2P15P16.1 Microdeletion Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Narrow mouth, Prominent nasal tip, Everte...	ORPHA:261349
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Leopard Syndrome 1	Pectus carinatum, Limited elbow movement, Kyphoscoliosis, Missing ribs, Short neck, Cubitus valgu...	OMIM:151100
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Focal Facial Dermal Dysplasia 3, Setleis Type	Depressed nasal bridge, Thick upper lip vermilion, Bulbous nose, Low anterior hairline, Distichia...	OMIM:227260
Intellectual Developmental Disorder, Autosomal Dominant 64	Low-set ears, Depressed nasal bridge, Plagiocephaly, Cupped ear, Bulbous nose, Anteverted nares, ...	OMIM:619188
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Secondary microcephaly, Narrow nasal bridge, Micrognat...	OMIM:620073
Congenital Muscular Dystrophy With Cerebellar Involvement	Calf muscle pseudohypertrophy, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the...	ORPHA:370959
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Severe short stature, Retrognathia, Hearing impairment, Abnormal earlobe morph...	ORPHA:2556
Gurrieri Syndrome	Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver...	OMIM:601187
Developmental And Epileptic Encephalopathy 89	Highly arched eyebrow, Clitoral hypertrophy, Microretrognathia, Sparse eyebrow, Long philtrum, Do...	OMIM:619124
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Low-set ears, Small nail, Postnatal growth retardation, Micrognathia, Sensorineu...	OMIM:609625
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Osteopenia, Depressed nasal bridge, Scoliosis, Disproportionate short stature,...	OMIM:222765
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Opitz Gbbb Syndrome	Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula, Telecanthus, Cryp...	OMIM:300000
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Hereditary Elliptocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal...	ORPHA:288
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Depressed nasal bridge, Low-set ears, Downturned corners of mouth, Long phil...	OMIM:608027
Meckel Syndrome	Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Encephalocele, Anophthalmia, Bowing of ...	ORPHA:564
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Horizontal eyebrow, Downturned corners of mouth, Large fleshy ears, Thin upper...	ORPHA:352530
Multiple Sulfatase Deficiency	Broad thumb, Cerebellar atrophy, Broad hallux, Hypoplastic vertebral bodies, Hydrocephalus	OMIM:272200
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Widely spaced primary teeth, Reduced hair sulfur content, Tiger tail banding, Wid...	OMIM:300953
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Plagiocephaly, Delayed skeletal maturation, Long philtru...	ORPHA:251061
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Upslante...	OMIM:152950
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor...	ORPHA:3027
Gand Syndrome	Wide nasal bridge, Broad nasal tip, Thin upper lip vermilion, Short philtrum, Sparse hair, Wide m...	OMIM:615074
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Toenail dysplasia, Hypoplastic fifth fingernail, Absent toenail, Generalized hirsutism, Biparieta...	ORPHA:1292
Warburg Micro Syndrome 4	Long philtrum, Secondary microcephaly, Anteverted nares, Prominent nasal bridge, Narrow mouth, Hi...	OMIM:615663
Lissencephaly 8	Talipes equinovarus, Optic atrophy, Occipital encephalocele, Microphthalmia	OMIM:617255
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Hydranencephaly, Microretrognathia, Bulbous nose, Anteverted nares, Neonatal death,...	OMIM:236500
Hamamy Syndrome	Low-set ears, Micrognathia, Sparse eyelashes, Low posterior hairline, Sensorineural hearing impai...	OMIM:611174
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Alopecia Antibody Deficiency	Conductive hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality o...	ORPHA:1006
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circula...	ORPHA:199299
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Pes planus,...	OMIM:616734
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Ankle clonus,...	OMIM:619995
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Low-set ears, Natal tooth...	ORPHA:313855
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Osteopenia, Wide nasal bridge, Depressed nasal bridge, Low-set ears, Downtur...	ORPHA:369837
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Lip pit, Supernumerary nipple, Camptodactyly of finger, Frontal ...	ORPHA:1236
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:614402
Whipple Disease	Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Myositis, Arthr...	ORPHA:3452
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Retinitis Pigmentosa 51	Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio...	OMIM:613464
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi...	ORPHA:549
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Pneumonia, Hepatitis, Fasciitis, Elevated circulating creatinine concentration, ...	ORPHA:36234
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Micrognathia, Arachnodactyly, Abnormal vitreous humor morpholog...	OMIM:604841
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Avascular necrosis of the capital femoral epi...	ORPHA:1901
Williams-Beuren Region Duplication Syndrome	Broad nasal tip, Horizontal eyebrow, Diastema, Macrocephaly, Long eyelashes, Micrognathia, Brachy...	OMIM:609757
Nabais Sa-De Vries Syndrome, Type 2	Sparse eyebrow, Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Long palpebral fissure...	OMIM:618829
X-Linked Dystonia-Parkinsonism	Blepharospasm, Protruding tongue	ORPHA:53351
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Ankle clonus, Head titubation, Hemivertebrae, Scoliosis	OMIM:614688
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell...	OMIM:609583
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Microcephaly, Brachycephaly, Short stature, Mandibular prognathia, Mac...	ORPHA:93950
Hajdu-Cheney Syndrome	Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased...	ORPHA:955
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Hyperlordo...	ORPHA:2831
Pitt-Hopkins Syndrome	Tooth malposition, Abnormal helix morphology, Failure of eruption of permanent teeth, Growth dela...	ORPHA:2896
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Wide nasal bridge, Low-set ears, Disproportionate short stature, Elbow flexion contracture, Long ...	OMIM:276820
Opitz Gbbb Syndrome	Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, High palate, Cleft li...	ORPHA:2745
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Dislocated radial head, H...	OMIM:182212
Rothmund-Thomson Syndrome	Carious teeth, Small nail, Alopecia totalis, Sparse eyelashes, Aplasia/Hypoplasia of the patella,...	ORPHA:2909
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Genu valgum, Telecanthus, Deep philtrum, Tented upper lip vermilion	ORPHA:2104
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Nail dystrophy, Sensorineural hearing impairment, Hypodontia, Anonychi...	OMIM:616029
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia	ORPHA:529808
Ctcf-Related Neurodevelopmental Disorder	Narrow mouth, Joint contracture of the 5th finger, Short nose, Osteopenia, Broad nasal tip, Low-s...	ORPHA:363611
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia	ORPHA:529799
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Yunis-Varon Syndrome	Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge...	ORPHA:3472
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Small nail, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyela...	OMIM:264090
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin conc...	ORPHA:90674
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni...	ORPHA:169160
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Ascit...	OMIM:619573
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Congenital sensorineural hearing impairment, Macrocephaly, Micrognathia, Posteriorly rotated ears...	OMIM:617306
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovarus, E...	ORPHA:567
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased suscept...	ORPHA:2176
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98855
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Micrognathia, Nar...	OMIM:614669
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen d...	OMIM:129900
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia	ORPHA:31150
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Aase-Smith Syndrome I	Slender finger, Open mouth, Talipes equinovarus, Ptosis, Hydrocephalus, Cleft palate	OMIM:147800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Anosmia, Failure of eruption of permanent teeth, Single naris, Hy...	ORPHA:2250
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Brachycephaly,...	OMIM:620240
Richieri Costa-Da Silva Syndrome	Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K...	ORPHA:3101
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ...	OMIM:607326
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Distal Deletion 6P	Low-set ears, Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, ...	ORPHA:96125
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O...	ORPHA:453504
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Abnormal ...	ORPHA:659
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Flat occiput, Osteomalacia, ...	ORPHA:289157
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Small nail, Hearing impairment, Microgn...	OMIM:617746
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Noonan Syndrome 14	High, narrow palate, Webbed neck, Sparse eyebrow, Low-set ears, Long philtrum, Prominent nasal br...	OMIM:619745
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Hearing impairment, Widely spaced teeth, Gingival overg...	OMIM:301072
Basilicata-Akhtar Syndrome	Precocious puberty, Downturned corners of mouth, Downslanted palpebral fissures, Telecanthus, Ten...	OMIM:301032
Hennekam Syndrome	Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Low-set ears, Conduct...	ORPHA:2136
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Downslanted palpebral fissures, Tented upper lip vermilion, Cryptorchidism, Long...	OMIM:614294
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Optic disc coloboma, Hypoplasia of the iris, Upslanted palpebral fissure, Male pseudo...	OMIM:600092
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Nicolaides-Baraitser Syndrome	Wide nasal base, Dry hair, Short lingual frenulum, Low posterior hairline, Absent eyebrow, Everte...	OMIM:601358
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Camptodactyly of finger, Downslanted palpebral fissures, Cutaneous fi...	ORPHA:896
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hearing impairment, Sandwich appearance of vertebral bodies, Pathologic fracture, ...	OMIM:259700
Rothmund-Thomson Syndrome Type 2	Carious teeth, Alopecia totalis, Patellar aplasia, Long nose, High palate, Sparse hair, Genu varu...	ORPHA:221016
Tarp Syndrome	Optic atrophy, Short palpebral fissure, Rocker bottom foot, Meckel diverticulum, Clinodactyly, Mi...	OMIM:311900
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Short toe, Umbilical hernia, Downslanted palpebral fissures, Telecanthus, Ging...	OMIM:225410
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Plagiocephaly, Thick vermilion border, Curly hair, Joint hyperm...	OMIM:619435
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion, Macrocephaly, Thin...	ORPHA:137634
Short Stature And Facioauriculothoracic Malformations	High palate, Ptosis, Cleft palate, Cleft upper lip	OMIM:609654
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Cockayne Syndrome A	Carious teeth, Dry hair, Limitation of joint mobility, Hip contracture, Delayed eruption of prima...	OMIM:216400
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Hip d...	ORPHA:198
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormal hair morphology, Genu valgum, Abnormality of the nail, Abnor...	ORPHA:289
Schinzel-Giedion Syndrome	Low-set ears, Abnormal helix morphology, Micrognathia, Radioulnar synostosis, Short neck, Infanti...	ORPHA:798
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,...	OMIM:215600
Arthrogryposis, Distal, Type 4	Hypoplastic helices, Osteopenia, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Low an...	OMIM:609128
X-Linked Intellectual Disability, Stevenson Type	Long foot, Genu valgum, Tented upper lip vermilion, Thick eyebrow, Microdontia, Large hands, Palp...	ORPHA:85325
Rabson-Mendenhall Syndrome	Premature graying of hair, High palate, Macrotia, Wide nose, Delayed skeletal maturation, Low ant...	ORPHA:769
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline cleft of the upper...	ORPHA:1071
Turnpenny-Fry Syndrome	Low-set ears, Narrow mouth, Prominent nasal tip, Thoracic kyphoscoliosis, High palate, Plagioceph...	OMIM:618371
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Hypogonadotropic hypogonadism, A...	ORPHA:494
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated circulating ...	ORPHA:52430
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Xp21 Deletion Syndrome	Recurrent otitis media, Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Steatorrhea	ORPHA:75233
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Microphthalmia, Isolated 6	Retinal fold, Microphthalmia	OMIM:613517
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Hearing impairment, Hip dislocation, Choanal atresia, Bulbous nose, Unilateral brea...	OMIM:300968
Noonan Syndrome 6	Wide nasal bridge, Webbed neck, Depressed nasal bridge, Low-set ears, Macrocephaly, Sensorineural...	OMIM:613224
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Long philtrum, Micromelia, Downslanted palpebr...	OMIM:618870
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Natal tooth, Congenital alopecia totalis, Absent hair, Intrauterine gr...	ORPHA:158687
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Hypoplasia of the pons, Clinodactyly...	OMIM:619512
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Broad femoral neck, Downslanted palpebral fissures, Micrognathia, Cryp...	OMIM:617164
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypertrichosis, Advanced eruption of teeth, Onychauxis, Short stature, High palate, Mandibular pr...	OMIM:262190
Cranioectodermal Dysplasia 3	Rhizomelia, Short nail, Fine hair, Widely spaced teeth, Scaphocephaly, Micrognathia, Joint hyperm...	OMIM:614099
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Depressed nasal bridge, Recurrent otitis media, Postnatal growth retardation, Anteve...	ORPHA:96184
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Hyperlipidemia, Calcinosis	ORPHA:90154
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira...	ORPHA:91138
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies...	OMIM:258480
Adnp Syndrome	Low-set ears, Depressed nasal bridge, High anterior hairline, Recurrent upper respiratory tract i...	ORPHA:404448
Immunodeficiency 49	Natal tooth, Umbilical hernia, Micrognathia, Psoriasiform dermatitis, Hirsutism, Wormian bones, S...	OMIM:617237
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Increased bone mineral density, Barrel-shaped chest, Lateral femoral bowing...	OMIM:239000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Radiouln...	OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Calf muscle hypertrophy, Hydrocephalus, Microphthalmia, Macroglossia, Retinal dystrophy	OMIM:613155
Seckel Syndrome	Delayed skeletal maturation, Tooth agenesis, Abnormal dental enamel morphology, Abnormal earlobe ...	ORPHA:808
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Depressed nasal bridge, Enlarged joints, Premature osteoarthritis, Lumbar hyperlor...	OMIM:215150
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Eec Syndrome	Choanal atresia, Sparse eyebrow, Carious teeth, Coarse hair, Fine hair, Tooth agenesis, Abnormal ...	ORPHA:1896
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair, Everted lower lip vermilion	OMIM:278200
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Onychogryposis of toenails...	ORPHA:2309
Fanconi Anemia, Complementation Group R	Radial dysplasia, Agenesis of permanent teeth, Microcephaly, Hydrocephalus, Microphthalmia, Scoli...	OMIM:617244
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Hypogonadotropic hypogonadism, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Joint hyperm...	OMIM:615349
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
14Q22Q23 Microdeletion Syndrome	Cupped ear, Downturned corners of mouth, Delayed skeletal maturation, Underdeveloped nasal alae, ...	ORPHA:264200
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Dense calvaria, Hy...	OMIM:252930
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Osteopenia, Wide nasal bridge, Dental malocclusion, Long philtrum, M...	ORPHA:73223
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Open mouth, High palate, Osteopenia, Plagiocephaly...	ORPHA:453499
Barber-Say Syndrome	Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Sparse eyelashes, H...	OMIM:209885
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo...	OMIM:100800
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Microspherophakia, Depressed nasal bridge, Spinal c...	OMIM:277600
H Syndrome	Cleft upper lip, Hypogonadism, Decreased testicular size, Azoospermia, Gingival overgrowth, Abnor...	ORPHA:168569
Sitosterolemia 1	Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas...	OMIM:210250
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Micrognathia, Short neck, Long nose, Sparse hair, Osteopenia, Alopeci...	ORPHA:2636
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Hydrocephalus, Cleft upper lip	ORPHA:398189
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Short neck, Calva...	OMIM:607014
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Umbilical hernia, Micrognathia, Joint contracture of the 5th finger, Joint contractur...	OMIM:618914
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Ptosis, Tented upper lip vermilion, Long philtrum	OMIM:619972
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Monosomy 13Q34	Insulin resistance, Hypercalcemia, Hepatic steatosis	ORPHA:96168
Mosaic Trisomy 20	Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve...	ORPHA:1724
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Weaver Syndrome	Depressed nasal bridge, Joint contracture of the hand, Scoliosis, Retrognathia, Fine hair, Long p...	OMIM:277590
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Ocular albinism, Micrognathia, Upslanted palpebral fissure, Aplasia/Hypop...	ORPHA:1352
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Dental crowding, Hirsutism, Frontal bossing, Synophrys	OMIM:619264
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Depressed nasal bridge, Rhizomelia, Growth delay, Hearing impairment, Delayed skele...	OMIM:614114
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Sparse eyebrow, High anterior hairline, Small nail, Broad columella, Underdeveloped...	OMIM:250410
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Lower limb asymmetry, Non-midline cleft of the upper lip, Tooth agenesis, Bilateral cleft palate,...	ORPHA:2003
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
19P13.3 Microduplication Syndrome	Precocious puberty, Hip subluxation, Clinodactyly, Downslanted palpebral fissures, Telecanthus, M...	ORPHA:447980
Microphthalmia, Syndromic 9	Wide nasal bridge, Low-set ears, Severe short stature, Bilateral microphthalmos, Intrauterine gro...	OMIM:601186
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Plagiocephaly, Bulbous nose, Oligodontia, Thin upper lip vermilion, Short stature, ...	OMIM:618330
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Bicornuate uterus, Hydrocephalus, Cleft palate	OMIM:258320
Frontonasal Dysplasia 3	Wide nasal bridge, Low-set ears, Underdeveloped nasal alae, Sparse eyelashes, Brachycephaly, Abse...	OMIM:613456
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Po...	ORPHA:228426
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98863
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Elbow dislocation, Open bite, Radial head subluxation, High palate, Hip dislocation...	OMIM:620083
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Sandal gap, Long philtrum, Micromelia, Broad hallux, Thick eyebrow, Single transve...	OMIM:614800
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Moderate postnatal growth retardation, Frontal bossing, Epiphyseal stippling, Hip co...	OMIM:118650
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98853
Split-Hand/Foot Malformation 3	Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palate, Cleft palate	OMIM:246560
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hypoglycemia, ...	OMIM:256810
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai...	OMIM:257980
Mycophenolate Mofetil Embryopathy	Tessier cleft, Chorioretinal coloboma, Micrognathia, Eyelid coloboma, Orofacial cleft, Tracheoeso...	ORPHA:268249
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Molar tooth sign on MRI, Preaxial polydactyly	OMIM:614615
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Arthritis	ORPHA:375
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function	ORPHA:70472
Achondroplasia	Rhizomelia, Hip joint hypermobility, Trident hand, Limited elbow extension, Knee joint hypermobil...	ORPHA:15
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep...	OMIM:308230
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Plagiocephaly, Abnormal form of the vertebral bodies, Hypop...	ORPHA:2021
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid...	OMIM:620565
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Micr...	OMIM:236680
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Alopecia totalis, Neonatal death, Anonychia, Absent fingernail	OMIM:609638
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Trisomy 17P	Downslanted palpebral fissures, Micrognathia, Narrow mouth, Clinodactyly of the 5th finger, Talip...	ORPHA:261290
Mesomelia-Synostoses Syndrome	Micrognathia, Short foot, Partial fusion of proximal row of carpal bones, Progressive forearm bow...	OMIM:600383
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Short neck, Hip dislocation, Short nose, Wide nose, Macrotia, Cervica...	OMIM:613458
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Chorioretinal coloboma, Ptosis, Blepharophimosis, Clinodactyly of the 5th finger, Meningocele, Gl...	ORPHA:2031
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Posterior plagiocephaly, Carious teeth, Ankyloglossia, Genu valgum, Everted lower l...	OMIM:615873
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hearing impairment, Widely spaced teeth, Recurrent otitis media, Postnatal growth retardation, In...	ORPHA:2728
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Bifid scrotum, Telecanthus, Genu valgum, Thin upper lip vermilion...	ORPHA:1295
Peters Plus Syndrome	Toe syndactyly, Micrognathia, Cryptorchidism, Anal atresia, Hypoplasia of the uterus, Hypospadias...	ORPHA:709
Bcard Syndrome	Platyspondyly, Abnormality of the dentition, Osteopenia, Coarse hair, Low-set ears, Downturned co...	OMIM:612394
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen d...	OMIM:604292
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Thin ribs, Radial bowing, Slender long bone, Recurrent fractures, Femo...	OMIM:610915
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Back pain, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Areflexia of upper limbs, Areflexia of lower limbs, Tongue atrophy	OMIM:616155
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Barber-Say Syndrome	Wide nasal bridge, Delayed eruption of teeth, Hearing impairment, Atresia of the external auditor...	ORPHA:1231
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae, Talipes, Tethered cord	OMIM:617660
Mend Syndrome	Asymmetry of the mouth, Broad hallux, Overlapping toe, Micrognathia, Overlapping fingers, Cryptor...	ORPHA:401973
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dystrop...	OMIM:617337
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu...	ORPHA:1811
Enlarged Parietal Foramina	Broad thumb, Cleft lip, Occipital encephalocele, Myelomeningocele, Short clavicles, Cleft palate	ORPHA:60015
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Diastema, Furrowed tongue, Decreased testicular size, Micrognathi...	OMIM:300534
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the ankle, Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wri...	ORPHA:2010
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Sparse lateral eyebrow, Downslanted palpebral fissures, Telecanthus, Micrognathia, Tented upper l...	ORPHA:314655
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Ambiguous genitalia	OMIM:264270
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Epicanthus, Anal atresia, Short ...	ORPHA:93271
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar cyst, Death...	OMIM:613153
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Depressed nasal bridge, Dental crowding, Delayed eruption of teeth, Conductive heari...	OMIM:300990
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia, Hearing impairment, Supernumerary nipple, Sparse body hair, Abnormal fingernail mor...	ORPHA:1809
Rodrigues Blindness	Tooth malposition, Fine hair, Narrow nasal bridge, Protruding ear, Microphthalmia, Short stature,...	OMIM:268320
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Bifid scrotum, Cryptorchidism, Epicanthus, Triphalangeal thumb, P...	ORPHA:1912
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence...	OMIM:268305
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Postnatal growth retardation, Carpal ...	OMIM:611717
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi...	OMIM:618961
Pagod Syndrome	Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Femal...	ORPHA:991
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors...	OMIM:610706
Congenital Fibrinogen Deficiency	Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Microphthalmia,...	ORPHA:335
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Low-set ears, Depressed nasal bridge, Thin upper lip vermilion, Brachycephaly, Short stature, Cra...	ORPHA:314575
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Overlapping fingers, Cryptorchidi...	OMIM:300960
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	High anterior hairline, Downturned corners of mouth, Anteverted nares, Brachycephaly, Deep philtrum	OMIM:618859
Mannosidosis, Alpha B, Lysosomal	Thoracolumbar kyphosis, Depressed nasal ridge, Growth delay, Widely spaced teeth, Hypertrichosis,...	OMIM:248500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Pseudoarthrosis,...	OMIM:619795
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Delayed eruption of permanent teeth, Rieger anomaly, Tented upper lip vermilio...	ORPHA:521445
Trisomy 12P	Downturned corners of mouth, Micrognathia, Thick eyebrow, Aplasia/Hypoplasia of the iris, Epicant...	ORPHA:1699
Stickler Syndrome, Type I	Micrognathia, Sensorineural hearing impairment, Beaking of vertebral bodies, Pierre-Robin sequenc...	OMIM:108300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Decreased calvarial ossification, Joint hype...	OMIM:616229
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Optic atrophy, Downturned corners of mouth, Lon...	OMIM:220500
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han...	OMIM:276950
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Orofaciodigital Syndrome X	Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Telecanthus, Coalescence of tarsal bo...	OMIM:165590
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto ...	OMIM:613385
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro...	ORPHA:251393
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Depressed nasal bridge, Conical tooth, Sparse eyebrow, Everted upper lip vermilion, Oligodontia, ...	OMIM:224900
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Upslanted palpebral fissure, Radioulnar ...	OMIM:617604
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Tarsal synostosi...	ORPHA:53271
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,...	ORPHA:79282
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ...	ORPHA:189
X-Linked Sideroblastic Anemia	Splenomegaly, Elevated circulating hepatic transaminase concentration, Glucose intolerance	ORPHA:75563
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Micrognathia, Gingival overgrowth, Vertebral segmentation ...	ORPHA:1834
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Scapular ...	OMIM:158900
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:615595
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Septooptic Dysplasia	Polydactyly, Optic nerve hypoplasia, Optic disc hypoplasia, Short finger	OMIM:182230
Stromme Syndrome	Iris coloboma, Retinal vascular tortuosity, Preaxial polydactyly, Intestinal malrotation, Microgn...	OMIM:243605
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r...	OMIM:308240
Auriculocondylar Syndrome 4	Micrognathia, Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Persistent open anterior fontanelle, Long philtrum, Narrow mouth, Joint hypermob...	OMIM:615539
Monosomy 13Q14	Wide nasal bridge, Webbed neck, Low-set ears, Trigonocephaly, Intrauterine growth retardation, Mi...	ORPHA:1587
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting	OMIM:615709
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Epicanthus, Pes planus, Flat acetabular roof, Adva...	OMIM:615777
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Low-set ears, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bo...	OMIM:613603
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Sparse eyebrow, Finger clinodactyly, Camptodactyly of fi...	ORPHA:306542
Spondyloenchondrodysplasia	Platyspondyly, Dental malocclusion, Delayed eruption of teeth, Lower limb pain, Disproportionate ...	ORPHA:1855
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Downslanted palpebral fissures, Short ribs, Median cleft...	OMIM:617088
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis	ORPHA:466722
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru...	ORPHA:1942
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Retinal detachment, Remnants of the hyaloid vascular system, Mic...	ORPHA:2714
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Narrow mouth, Everted lower lip vermilion, High palate, Sparse eyebrow, Bulbous nos...	ORPHA:3063
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low-set ears, Long eyelashes, Thick eyebrow, Anteverted nares, Low anterior hairline, Hirsutism, ...	OMIM:616819
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Short thumb, Sprengel anomaly, Triphalangeal thumb, Osteop...	OMIM:612562
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Depressed nasal bridge, Kyphosis, Delayed skeletal maturation, Long philtrum, Front...	OMIM:608776
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph...	OMIM:312300
Mitochondrial Neurogastrointestinal Encephalomyopathy	Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Elevated circulating hepatic transa...	ORPHA:298
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, A...	ORPHA:3320
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Broad thumb, Intestinal malrotation, Micrognathia, Upslanted palpebral fissure, Bilateral cleft p...	ORPHA:2001
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Aplasia/Hypoplasia of the patella, Sensorineural ...	OMIM:617063
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Delayed puberty, Short stature	ORPHA:447896
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Hearing impairment, Increased susceptibility to fractures, Biconcave v...	OMIM:613982
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Tented philtrum, Narrow mouth, Patellar aplasia, Short neck, Patellar dislocation, ...	ORPHA:495818
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Wide nasal base, Low-set ears, Broad nasal tip, Broad columella, Long philtrum, Hearing impairmen...	OMIM:617763
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s...	OMIM:163400
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Limited ...	OMIM:304150
Atelis Syndrome 2	Short palpebral fissure, Clinodactyly, Downturned corners of mouth, Diastema, Thick lower lip ver...	OMIM:620185
Monilethrix	Abnormality of the dentition, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growi...	ORPHA:573
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Abnormal vertebral morphology, Highly arched eyebrow, Wide nasal bridge, Downturned corners of mo...	OMIM:616728
Alazami Syndrome	Low-set ears, Sparse eyebrow, Widely spaced teeth, Postnatal growth retardation, Malar flattening...	ORPHA:319671
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ...	OMIM:250790
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Depressed nasal bridge, Plagiocephaly, Dental crowding, Underdeveloped nas...	OMIM:619005
Xq28 (MECP2) duplication	Depressed nasal bridge, Narrow mouth, Malar flattening, Death in childhood, Microcephaly, Brachyc...	DECIPHER:45
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure,...	ORPHA:83
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Cryptorchidism, Broad foot, Talipes equinovarus, ...	ORPHA:373
Gm1 Gangliosidosis	Low-set ears, Narrow mouth, Generalized hirsutism, Macrotia, Depressed nasal ridge, Broad nasal t...	ORPHA:354
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, High, narrow palate, Osteopenia, Hypo...	ORPHA:2462
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Absent earlobe, Spars...	ORPHA:3455
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Cleft lip, Dental malocclusion, Lacrimal duct atresia, Cryptorchidism, Hypogonadotro...	OMIM:603457
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Short stature, Growth delay, Hip...	OMIM:614381
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia...	OMIM:613848
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Low posterior hairline, Carpal bone hypoplasia, Short neck, Advanced ossification of carpal bones...	OMIM:610442
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Plagiocephaly, Long philtrum, Supernumerary nipple, Fro...	ORPHA:457279
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coarse hair, Coronal craniosynostosis, C...	ORPHA:2095
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Ascites, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hep...	OMIM:259720
Monosomy 22	Retrognathia, Long philtrum, Contractures of the large joints, Low-set, posteriorly rotated ears,...	ORPHA:96123
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Hearing impairment, Underdeveloped nasal alae, Widely spaced te...	ORPHA:90024
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, High anterior hairline, Dry hair, Cleft lip, Coarse hair, Nail dystrophy,...	OMIM:620519
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele	ORPHA:1759
Cardiofaciocutaneous Syndrome 2	Low-set ears, Fine hair, Anteverted nares, Absent eyebrow, Curly hair, High palate, Sparse hair, ...	OMIM:615278
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Hepato...	ORPHA:85414
Tarp Syndrome	Optic atrophy, Short palpebral fissure, Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypo...	ORPHA:2886
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Oligodontia, Sparse eyelashe...	ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Proboscis Lateralis	Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ...	ORPHA:141099
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Delayed cranial suture closure, Postnatal growth reta...	ORPHA:1272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,...	OMIM:615181
Koolen-De Vries Syndrome Due To A Point Mutation	Open mouth, Cryptorchidism, Hand muscle atrophy, Arachnodactyly, Epicanthus, Pes planus, Everted ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Open mouth, Cryptorchidism, Hand muscle atrophy, Arachnodactyly, Epicanthus, Pes planus, Everted ...	ORPHA:363958
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Hypoplasia of the brainstem, Abnormal foot morphology, Cerebellar d...	OMIM:617822
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Erosion of oral mucosa, Recurrent fractures, Bone ...	ORPHA:1656
Weill-Marchesani Syndrome 2	Tooth malposition, High palate, Hypoplasia of the maxilla, Delayed skeletal maturation, Proportio...	OMIM:608328
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Downslanted palpebral fissures, Narrow mouth, Exaggerated cupid's bow, Epicanthus, S...	OMIM:619480
Bazex-Dupre-Christol Syndrome	Coarse hair, Underdeveloped nasal alae, Trichorrhexis nodosa, Furrowed tongue, Low hanging colume...	OMIM:301845
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Occipital encephalocele, Micrognathia, Bowing of t...	OMIM:619879
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger	ORPHA:544488
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Growth delay, Bilateral microphthalmos, Delayed cranial suture closure, Delayed sk...	ORPHA:93325
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Bloom Syndrome	Recurrent upper respiratory tract infections, Hypertrichosis, Postnatal growth retardation, Promi...	OMIM:210900
Trichothiodystrophy	Carious teeth, Brittle hair, Split nail, Bilateral sensorineural hearing impairment, High, narrow...	ORPHA:33364
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Carey-Fineman-Ziter Syndrome 1	Spinal rigidity, Depressed nasal bridge, Microglossia, Scoliosis, Retrognathia, Broad nasal tip, ...	OMIM:254940
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Thick eyebrow, Cu...	ORPHA:247768
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Sparse eyebrow, Plagiocephaly, Growth delay, Widely spaced teeth, Frontal bossing, Secondary micr...	OMIM:617193
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Decreased circulating carnitine concentration	OMIM:618235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Art...	OMIM:304790
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Cryptorch...	OMIM:309800
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab...	ORPHA:79332
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Say Syndrome	Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Cleft palate, Ta...	OMIM:181180
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Ohdo Syndrome, Sbbys Variant	Long hallux, Micrognathia, Cryptorchidism, Long thumb, Microdontia, Thin upper lip vermilion, Ble...	OMIM:603736
Neuroocular Syndrome 1	Hooded upper eyelid, Ankyloglossia, Hypoplasia of the fovea, Torus palatinus, Pes planus, Microph...	OMIM:619539
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Intrauterine growth retardation, Nail dystrophy, Micro...	OMIM:616353
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Abnormal to...	ORPHA:140936
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Syndactyly	OMIM:616006
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, Low-set, posteriorly rotated ears, Joint hypermobility, Microcephaly, Brachyceph...	ORPHA:3306
Methylcobalamin Deficiency Type Cble	Clinodactyly, Hydrocephalus, Osteoporosis, Scoliosis, Syndactyly	ORPHA:2169
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decreased circulating beta-...	ORPHA:572
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Limitation of joint mobility, Abnormal earlobe morph...	ORPHA:95699
Ramon Syndrome	Delayed eruption of teeth, Hearing impairment, Hypertrichosis, Short stature, Juvenile rheumatoid...	OMIM:266270
Kinsship Syndrome	Ankyloglossia, Micrognathia, Pes planus, Dislocated radial head, Hip dislocation, Short palpebral...	OMIM:619297
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Glycerol Kinase Deficiency	Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Reduced glycerol kin...	OMIM:307030
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Restrictive Dermopathy	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Large placenta, Decreased skull ossificati...	ORPHA:1662
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
X Small Rings	Toe syndactyly, Upper limb undergrowth, Clinodactyly of the 5th finger, Lower limb undergrowth, J...	ORPHA:96201
Hypotrichosis 9	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abno...	OMIM:614237
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Hip subluxation, Umbilical hernia, Elbow flexion contracture, Generalized joint hyper...	ORPHA:1900
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Nail dystrophy, Narrow ...	OMIM:224750
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Microphthalmia	OMIM:615771
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements	ORPHA:71518
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement...	ORPHA:221120
Lichen Planopilaris	Hepatitis	ORPHA:525
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Microcephaly, Anteverted ears, Sparse hair, Mandibular prognathia, Short nose	OMIM:618087
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Hypercholesterolemia	OMIM:616730
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Micrognathia, Aprosencephaly, Talipes equinovarus, Absent mesencephalon, Po...	OMIM:601374
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, C...	ORPHA:3082
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:367
Warburg Micro Syndrome 2	Small scrotum, Optic atrophy, Overlapping toe, Cryptorchidism, Clinodactyly of the 5th toe, Hypop...	OMIM:614225
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Oculoauriculofrontonasal Syndrome	Cleft lip, Micrognathia, Narrow mouth, Encephalocele, Upper eyelid coloboma, Broad philtrum, Limb...	ORPHA:398156
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Cleft lip, Duodenal atresia, Downslanted palpebral fissures, Furrowed tongue, Micr...	OMIM:616975
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Depressed nasal bridge, Growth delay, Hearing impairment, Long philtrum, Breast hyp...	OMIM:601353
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Chorioretinal coloboma, Umbilical hernia, Intestina...	OMIM:115470
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Ascites, Hyperbilirubinemia, Decreased fumarate hydrat...	OMIM:606812
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Plagiocephaly, Flat occiput, Postnatal growth retardation, Genu valgum, Micrognathi...	ORPHA:300570
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Parietal foramina, Delayed...	OMIM:603116
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Achondrogenesis	Micrognathia, Micromelia, Long philtrum, Umbilical hernia	ORPHA:932
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Van Esch-O'Driscoll Syndrome	Clinodactyly of the 5th finger, Spina bifida occulta, Scoliosis, Short middle phalanx of finger, ...	OMIM:301030
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin con...	ORPHA:90673
Mccune-Albright Syndrome	Increased circulating cortisol level, Hepatitis, Cholestasis, Primary hypercortisolism, Hypophosp...	ORPHA:562
Tetraamelia Syndrome 1	Absent external genitalia, Cleft upper lip, Micrognathia, Hypoplastic pelvis, Microphthalmia, Hyd...	OMIM:273395
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ...	OMIM:192350
Melioidosis	Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen...	ORPHA:31202
Vici Syndrome	Everted upper lip vermilion, Long philtrum, Cleft upper lip, Ocular albinism, Hypopigmentation of...	OMIM:242840
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis	ORPHA:1163
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Single transverse palmar cr...	OMIM:618161
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ...	ORPHA:321
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Dental crowding, Umbilical hernia, Persistence of p...	OMIM:619769
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Abnormality of the dentition, Osteopenia, Carious teeth, Del...	ORPHA:221008
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa...	OMIM:619991
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Osteopenia, Genu valgum	OMIM:614880
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Umbilical hernia, Sacral dimple, Hearing impairment, ...	ORPHA:1620
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Upslanted palpebral fissure, Talipes equinovarus, Th...	ORPHA:250999
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Bruck Syndrome 2	Platyspondyly, Osteopenia, Pectus carinatum, Elbow flexion contracture, Femoral bowing, Increased...	OMIM:609220
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C...	OMIM:209920
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Curly hair, High palate, Hip dislocation, Plagiocephaly, Do...	OMIM:618268
Rauch-Steindl Syndrome	Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Long philtrum, Prominent crus o...	OMIM:619695
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont...	ORPHA:3206
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Abnormality of the hairline, Micrognathia, Thoracic kyphoscolio...	ORPHA:3132
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Secondary microcephaly, Sensorineural hearing impairment, Patellar di...	ORPHA:353281
Gm1-Gangliosidosis, Type I	Severe short stature, Depressed nasal ridge, Hypertrichosis, Frontal bossing, Joint stiffness, Gi...	OMIM:230500
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Cupped ear, Downturned corners of mouth, Small nail, Hearing impairme...	OMIM:617052
Tetraamelia Syndrome 2	Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Micropenis, Glossopt...	OMIM:618021
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced circulating pyrimidine 5-prime-nucleotidase activity	OMIM:266120
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Palmop...	OMIM:259100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Increased circulating very long-chain fatty acid concen...	OMIM:614866
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI	OMIM:612291
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Autosomal Dominant Spastic Ataxia Type 1	Jerky head movements	ORPHA:251282
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Aqueductal stenosis, Scoliosis	OMIM:162200
Primary Dystonia, Dyt13 Type	Jerky head movements	ORPHA:98807
Cranioectodermal Dysplasia 2	Low-set ears, Micrognathia, Sparse eyelashes, Short neck, Everted lower lip vermilion, High palat...	OMIM:613610
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Craniofacial osteosclerosis, Delayed eruption of tee...	ORPHA:1328
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Abnormal form of the vertebral bodies, Anteverted nares, Pro...	ORPHA:475
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Fanconi Anemia, Complementation Group L	Absent thumb, Hypoplastic sacrum, Micrognathia, Microphthalmia, Upslanted palpebral fissure, Apla...	OMIM:614083
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation	OMIM:211900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili...	OMIM:620114
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Genu valgum, Sensorineural hearing impairment, Short neck, Ost...	ORPHA:309282
Adams-Oliver Syndrome 1	Imperforate hymen, Toe syndactyly, Cleft upper lip, Encephalocele, Talipes equinovarus, Brachydac...	OMIM:100300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle...	OMIM:616738
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hepatomegaly,...	OMIM:616622
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia, Optic atrophy	ORPHA:529665
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Camptodactyly of finger, Micrognathia, Abnormality of retinal pigmentation, Submucou...	ORPHA:2521
Naxos Disease	Palmoplantar keratoderma, Cleft upper lip	ORPHA:34217
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Abnormal shoulder morphology, Localized osteoporosis, Joint stiffne...	ORPHA:66627
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Pachyonychia Congenita 2	Sparse eyebrow, Dry hair, Natal tooth, Oral leukoplakia, Subungual hyperkeratosis, Nail dystrophy...	OMIM:167210
Microphthalmia, Syndromic 16	Ankyloblepharon, Anophthalmia, Microphthalmia	OMIM:611038
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Hypercalcemia	ORPHA:2123
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Kyphosis, Abnormal form of the vertebral bodies, Calcification of the auricular ca...	ORPHA:3042
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Low-set ears, Bulbous nose, ...	OMIM:609460
Intellectual Developmental Disorder, Autosomal Dominant 74	Prominent nose, Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Brach...	OMIM:620688
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recurrent otitis med...	OMIM:150230
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Abnormality of retinal pigmen...	ORPHA:773
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Upslanted palpebral fissure, Epicanthus, Hypop...	ORPHA:1642
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae	OMIM:612852
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Downslanted palpebral fissures, Preaxial foot polydacty...	OMIM:119800
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Fine hair, Underdeveloped nasal alae, Elbow flexion contracture, Prominent ear helix,...	OMIM:614438
Microphthalmia, Syndromic 6	Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Cryptorchidism...	OMIM:607932
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase...	ORPHA:26793
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Abnormal fe...	ORPHA:1842
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Depressed nasal bridge, Long philtrum, Postnatal growth retardation, Anteverted nar...	OMIM:257300
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Colitis, Hepatoblastoma, Cirrhosis, Gas...	ORPHA:84064
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Microphthalmia, Encephalocele, Ab...	ORPHA:974
8Q12 Microduplication Syndrome	Wide nasal bridge, Highly arched eyebrow, Long philtrum, Narrow mouth, Sensorineural hearing impa...	ORPHA:228399
Nijmegen Breakage Syndrome	Anal stenosis, Sandal gap, Cleft upper lip, Retinal pigment epithelial mottling, Micrognathia, Up...	OMIM:251260
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydrometrocolpos, Hypogonadism, Polydactyly, Rod-cone dystrophy, Post...	OMIM:615989
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Promin...	ORPHA:1788
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ambiguous genitalia, Micromelia, Cryptorchidism	ORPHA:2772
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena...	ORPHA:232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Retinal degeneration, Coloboma, Hydrocephalus, Microphthalmia	OMIM:615249
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Sparse eyebrow, Plagiocephaly, Growth delay, Fractures of the long bo...	ORPHA:496641
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Oliver-Mcfarlane Syndrome	Severe short stature, Alopecia, Long eyelashes, Delayed puberty, Long eyebrows, Sparse hair	OMIM:275400
Borjeson-Forssman-Lehmann Syndrome	Hearing impairment, Large earlobe, Thick eyebrow, Joint hypermobility, Camptodactyly of toe, Micr...	ORPHA:127
Menke-Hennekam Syndrome 1	Low-set ears, Everted upper lip vermilion, Hearing impairment, Micrognathia, Absent earlobe, High...	OMIM:618332
Congenital Insensitivity To Pain With Severe Intellectual Disability	Short palpebral fissure, Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral ...	ORPHA:453510
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri...	OMIM:614034
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, L...	OMIM:207410
Pili Torti-Onychodysplasia Syndrome	Cleft lip, Palmoplantar keratoderma, Absent eyelashes, Conjunctival hyperemia, Cutaneous syndacty...	ORPHA:2890
Congenital Disorder Of Glycosylation, Type 2V	Downslanted palpebral fissures, Thin upper lip vermilion, Short philtrum, Talipes equinovarus, Ep...	OMIM:619493
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Downslanted palpebral fissures, Abnormal sacroiliac joint ...	ORPHA:2655
Chédiak-Higashi Syndrome	Elevated circulating hepatic transaminase concentration, Periodontitis, Increased circulating lac...	ORPHA:167
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Elevated circulating aspartate aminotransferase concentration, Hepatosple...	OMIM:615559
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Hypotrichosis 7	Abnormality of the dentition, Sparse eyebrow, Abnormal sweat gland morphology, Sparse body hair, ...	OMIM:604379
Witkop Syndrome	Hypoplastic fifth toenail, Abnormal sweat gland morphology, Fine hair, Agenesis of permanent teet...	OMIM:189500
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Clitoral hypertrophy, Pigmentary retinopathy, Colonic atresia, Anteriorly placed a...	OMIM:309801
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nasal bridge, Severe short stature, Long philtrum, Abnormal hair morphology, Leukonychia, Th...	ORPHA:2526
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Left ventricular hy...	OMIM:619127
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Frontal balding, Micrognathia, Sensorineural hearing impairment, Short neck, Microp...	OMIM:612474
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Ankyloglossia, Alopecia totalis, Micrognathia,...	ORPHA:740
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Small nail, Hearing impairment, Micrognathia, Narrow mouth, Low posterior hairline,...	OMIM:309590
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements	ORPHA:382
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Abnormal toenail morphology, Sen...	ORPHA:444077
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Vertebral segmentation defect, Low posterior hairline, Short neck, Short stature	ORPHA:2578
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero...	ORPHA:89936
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Recurrent i...	ORPHA:508
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth...	ORPHA:83461
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Hip dislocation, Dumbbell-shaped femur, Flared metap...	OMIM:156550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Encephalocele, Buphthalmos, Hydrocephalus, Microphthalmia, Macroglossia, Cleft p...	OMIM:613150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Widely spaced teeth, Anteverted nares, P...	OMIM:300260
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Hyperammonemia, Hyperglutaminemia, Cirrhosi...	OMIM:215700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Ascites, Minimal change glomerulonephritis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Ptosis, Abnormality of retinal pigmentation	ORPHA:2743
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Conical tooth, Recurrent otitis media, Nail dystrophy, Recurrent sinusitis, Sparse ha...	ORPHA:98813
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Skin rash	OMIM:601979
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:289916
Nestor-Guillermo Progeria Syndrome	Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, R...	OMIM:614008
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Hearing impairment, Fine hair, Abnormal fingernail morphology, Narr...	ORPHA:1806
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Vertebral segmentation defect	ORPHA:3004
Hypophosphatasia, Infantile	Platyspondyly, Abnormality of the dentition, Unossified vertebral bodies, Disproportionate short-...	OMIM:241500
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Sensorineural hea...	OMIM:601088
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Knee flexion contracture, Postaxial polydactyly, Long palpebral fissure, ...	OMIM:603387
Loeys-Dietz Syndrome 5	Cleft soft palate, High palate, Short stature, Cleft palate, Flexion contracture of toe, Bifid uv...	OMIM:615582
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased calvarial ossification, Shor...	OMIM:618265
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Feingold Syndrome	Depressed nasal bridge, Abnormal form of the vertebral bodies, Anteverted nares, Micrognathia, Se...	ORPHA:1305
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Short stature, Delayed eruption of teeth	ORPHA:2238
Lethal Congenital Contracture Syndrome 1	Widening of cervical spinal canal, Micrognathia, Arthrogryposis multiplex congenita, Neonatal death	OMIM:253310
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Macroglossia	ORPHA:79107
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Hyperammonemia, Pancreatitis, Splenomegaly	ORPHA:79312
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Hydranencephaly, Cleft palate	OMIM:601355
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Plagiocephaly, Cervical spinal canal stenosis, Bulbous nose, Anteverted n...	OMIM:620224
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteoporosis, Osteopenia, Kyphosis, Ovarian cyst	OMIM:610475
Menkes Disease	Alopecia, Intrauterine growth retardation, Death in childhood, Joint hypermobility, Wormian bones...	OMIM:309400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Pigmentary retinopathy, Joint contracture of the hand, Micrognathia, Crypto...	OMIM:214110
Knobloch Syndrome 1	Occipital encephalocele, Peripapillary atrophy, Joint hypermobility, Optic disc pallor, Spina bif...	OMIM:267750
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Increased total bilirubin	ORPHA:90036
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Plagiocephaly, Microcephaly, Brachycephaly, High palate, Cleft palate	OMIM:618603
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Oral leukoplakia, Fine hair, Premature graying of hair, Pathologic fracture, Postnata...	OMIM:612199
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Cryptorchidism, Tal...	OMIM:615546
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Baller-Gerold Syndrome	Conductive hearing impairment, Brachyturricephaly, Growth delay, Frontal bossing, Narrow nasal br...	ORPHA:1225
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Elevated circulating hepatic transaminase conce...	ORPHA:66634
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Nail dysplasia	OMIM:129550
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short palpebral fissure, Downturned corners of mouth, Clinodactyly, Anteriorly placed anus, Proxi...	OMIM:217980
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Fibula...	ORPHA:3144
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Distal Duplication 17Q	Rhizomelia, Overlapping toe, Micrognathia, Genu valgum, Cryptorchidism, Pes cavus, Thin upper lip...	ORPHA:3379
Teeth Present At Birth	Natal tooth	OMIM:187050
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Epicanthus, Unilateral cleft pal...	OMIM:619122
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Joint hypermobility, Absent eyebrow, Curly hair, Short statu...	OMIM:615280
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Pes cavus, Abnormal pons mor...	ORPHA:206448
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Deafness, X-Linked 7	Ptosis, Unilateral microphthalmos, Thick eyebrow, Telecanthus	OMIM:301018
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later...	OMIM:150400
Congenital Toxoplasmosis	Hydrocephalus, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:858
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia	OMIM:609054
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Ectrodactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Oligodactyly, Thin eyeb...	ORPHA:2273
Campomelia, Cumming Type	Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Bowing of...	ORPHA:1318
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Arthrogryposis multiplex congenita, Recurrent otitis media, Micrognathia, Cleft sof...	OMIM:619503
Chops Syndrome	High, narrow palate, Coarse hair, Downturned corners of mouth, Long philtrum, Tracheomalacia, Hea...	OMIM:616368
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Contracture of the proximal interphal...	OMIM:300998
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Micrognathia, Hydrocephalus, Agenesi...	ORPHA:163961
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Long philtrum, Frontal bossing, Open bite, Anteverted nares, Micrognathia,...	ORPHA:1974
Xylt1-Cdg	Broad thumb, Clinodactyly, Long philtrum, Flared metaphysis, Short clavicles, Coxa valga, Pes pla...	ORPHA:370930
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Low-set ears, Elbow dislocation, Micrognathia, Death in childhoo...	OMIM:210710
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Broad nasal tip, Downturned corners of mouth, Plagiocephaly, Low-set, posterio...	ORPHA:457193
Chromosome 1P36 Deletion Syndrome, Distal	Cryptorchidism, Epicanthus, Blepharophimosis, Optic disc pallor, High palate, Short foot, Hypospa...	OMIM:607872
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Depressed nasal bridge, Hearing impairment, Abnormal hair morphology, Anteverted nares, Malar fla...	ORPHA:86818
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp...	ORPHA:199302
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Clinodactyly, Long philtrum, 11 pairs of ribs, Thick eyebrow, Tented upper l...	ORPHA:488632
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Hearing impairment, Metacarpal synostosis	ORPHA:35099
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:171876
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Br...	OMIM:187601
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Frontometaphyseal Dysplasia 2	Low-set ears, Hip contracture, Sensorineural hearing impairment, Dislocated radial head, High pal...	OMIM:617137
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly	OMIM:607685
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure, Postnatal growth reta...	ORPHA:93324
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Sialidosis Type 1	Wide nasal bridge, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Thick lowe...	ORPHA:812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Alopecia, Sparse eyebrow, Sparse pubic hair, Hearing impairment, Abnormal eyebrow mor...	ORPHA:2232
Hypoglossia-Hypodactylia	Microglossia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Epicanthus, Split hand	OMIM:103300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Unilateral cleft lip, Sparse lateral eyebrow, Thick lower lip vermilion, Downslanted...	OMIM:619103
Mucolipidosis Type Iii Alpha/Beta	Umbilical hernia, Joint stiffness, Kyphoscoliosis, Short neck, Generalized osteoporosis, Flexion ...	ORPHA:423461
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Increased carrying angle, Plagiocephaly, Sparse lateral eyebrow, Small nail, Trichorrhe...	OMIM:261990
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Delayed eruption of teeth, Hearing impairment, Premature loss of primary teeth, Oti...	ORPHA:667
Arima Syndrome	Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Hypoplasia of the brainstem, Brainstem ...	OMIM:243910
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Palmoplantar keratoderma, Abnormal ep...	ORPHA:2796
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Witteveen-Kolk Syndrome	Flared nostrils, Hearing impairment, Hyperplasia of the maxilla, Narrow mouth, Open mouth, Glue e...	OMIM:613406
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Hepa...	OMIM:618278
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Depressed nasal bridge, Delayed cranial suture closure, Depressed nasal tip, Microg...	OMIM:620005
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Tooth agenesis, Abnormal female ex...	ORPHA:2637
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Growth delay, Abnormal position of hair whorl, Microcephaly, Brachycephaly...	ORPHA:85290
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h...	ORPHA:110
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Myelopathy, Abnormality of the ve...	ORPHA:909
Primrose Syndrome	Hearing impairment, Sparse body hair, Genu valgum, Narrow mouth, Hip contracture, Torus palatinus...	OMIM:259050
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Ascites, Abnormality of the liver, Hyperbilirubinemia	ORPHA:464321
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal ma...	ORPHA:93259
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Short palpebral fissure, Dental crowding, Sandal gap, Long philtrum, Broad hallux,...	OMIM:616078
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Spinal arachnoid cyst, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Cleft pa...	ORPHA:33001
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Osteoporosis, Flexion contracture, Scoliosis	OMIM:615851
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Alopecia, Plagiocephaly, Growth delay, Frontal bossing, Prominent occiput, Verte...	ORPHA:2612
Gm1 Gangliosidosis Type 1	Platyspondyly, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, Acetabular dysplasi...	ORPHA:79255
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Highly arched eyebrow, Broad nasal tip, Anteverted nares, Malar flattenin...	OMIM:600430
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,...	OMIM:256040
Infantile Refsum Disease	Hepatomegaly, Elevated circulating phytanic acid concentration, Very long chain fatty acid accumu...	ORPHA:772
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Townes-Brocks Syndrome	Toe syndactyly, Broad thumb, Abnormal vagina morphology, Chorioretinal coloboma, Cryptorchidism, ...	ORPHA:857
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Hypoplasia of the odontoid process, ...	OMIM:616007
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, Epi...	OMIM:614976
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Plagiocephaly, Supernumerary nipple, Umbilical hernia, Open mouth, Tented upper lip...	OMIM:616579
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	High anterior hairline, Plagiocephaly, Thin upper lip vermilion, Microcephaly, Brachycephaly, Sho...	OMIM:618862
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Increased susceptibility to fractures, Joint hypermobility, Arachn...	ORPHA:90354
Ablepharon Macrostomia Syndrome	Hearing impairment, Atresia of the external auditory canal, Absent eyelashes, Absent eyebrow, Spa...	ORPHA:920
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip...	OMIM:184100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal...	ORPHA:85435
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Elbow contracture, Macrotia, Bulbous nose, Narrow nose, Micrognathia, Irregular de...	OMIM:615656
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Narrow mouth, Bilateral sensorineural hearing impairment, Lobar holoprosencephaly, Ankle flexion ...	ORPHA:468631
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Anteverted nares, Na...	ORPHA:1790
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi...	OMIM:611126
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacar...	ORPHA:2167
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypomagnese...	ORPHA:699
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Hepatomegaly	ORPHA:927
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Wide nasal bridge, Coarse hair, Shallow acetabular fossae, Depressed n...	OMIM:242900
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Cartilage-Hair Hypoplasia	Sparse eyebrow, Hypoplasia of the odontoid process, Absent pubertal growth spurt, Fair hair, Fine...	OMIM:250250
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cryptorchidism, Microphthalmia	OMIM:613730
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Splenomegaly, Sinusitis, Hepatomegaly, Bronchiectasis	OMIM:226990
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomeg...	ORPHA:507
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Pes cavus, Talipes equinovarus, Tongue atrophy, Hammertoe	OMIM:601596
Alg9-Cdg	Low-set ears, Delayed cranial suture closure, Large fleshy ears, Micrognathia, Low posterior hair...	ORPHA:79328
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver...	OMIM:261515
Pallister-Killian Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Delayed cranial suture closure, Secondary...	OMIM:601803
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Trigonocephaly, Wormian bones, Macroce...	OMIM:617159
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:610198
Cranioectodermal Dysplasia 1	Low-set ears, Anodontia, Everted lower lip vermilion, Thin nail, High palate, Sparse hair, High, ...	OMIM:218330
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Optic atrophy, Abnormality of the male genitalia, Volvulus, Thick l...	ORPHA:847
19P13.13 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Macrotia, Long eyelashes, Anteverted nares, Narrow mouth, M...	ORPHA:357001
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Skin rash, Splenomegaly	OMIM:105200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Optic atrophy, Kyphosis, Joint stiffness, Genu valgum, Arachnodactyly, Pectus e...	ORPHA:394
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Ankyloblepharon, Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Hypodontia, Aplasia/Hypoplasia of the eyebrow, Sparse ...	ORPHA:50944
Pseudohypoparathyroidism Type 1A	Depressed nasal bridge, Ectopic ossification, Delayed eruption of teeth, Sensorineural hearing im...	ORPHA:79443
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion contracture, 2-3 t...	OMIM:618162
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat...	OMIM:600955
Galloway-Mowat Syndrome 7	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa...	OMIM:618348
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Recurrent pancreatitis, Hyperc...	OMIM:606721
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly...	OMIM:616483
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Abnormality of retinal pigmentati...	ORPHA:290
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Hepatosplenomegaly, Conjugated hyperbilirubinemia	ORPHA:168577
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, M...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, M...	ORPHA:353277
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Micrognathia,...	OMIM:600920
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Hepat...	OMIM:615273
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowing of the long bones, Abnormal morphol...	ORPHA:249
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Glossoptosis, Cleft palate, Hyperextensibility of the finger joints	OMIM:618356
Thanatophoric Dysplasia Type 2	Micromelia, Encephalocele, Brachydactyly, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis m...	ORPHA:93274
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eru...	OMIM:149730
Kagami-Ogata Syndrome	Short palpebral fissure, Long philtrum, Micrognathia, Limb undergrowth, Blepharophimosis, Long fi...	OMIM:608149
Cockayne Syndrome	Carious teeth, Dry hair, Postnatal growth retardation, Delayed eruption of primary teeth, Microph...	ORPHA:191
Ollier Disease	Precocious puberty, Abnormal metaphysis morphology, Micromelia	ORPHA:296
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C...	ORPHA:465508
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly, Thoracolumbar scoliosis, Macrocephaly	OMIM:607313
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, 11 pairs of ribs, Bilateral single transverse palmar creases, Adducted...	ORPHA:50810
Faciocardiomelic Syndrome	Osteopenia, Depressed nasal bridge, Dental malocclusion, Long philtrum, Hyperplasia of the maxill...	OMIM:612731
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Downslanted palpebral fissures, Abnormal dental enamel morphology, Cryptorchidism, Mi...	ORPHA:1812
Fucosidosis	Abnormality of the dentition, Abnormality of the nail, Hearing impairment, Brachycephaly, Anterio...	ORPHA:349
Desmosterolosis	Bifid uvula, Micromelia, Downslanted palpebral fissures, Intestinal malrotation, Micrognathia, Na...	ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis, Delayed skeletal maturation, Delayed puberty, Mi...	ORPHA:330015
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin...	ORPHA:369950
Holoprosencephaly 4	Median cleft upper lip, Ptosis, Semilobar holoprosencephaly, Median cleft palate	OMIM:142946
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Cherry red spot of the mac...	ORPHA:2752
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation	ORPHA:1508
Kagami-Ogata Syndrome	Webbed neck, Depressed nasal bridge, Limitation of joint mobility, Pursed lips, Postnatal growth ...	ORPHA:254519
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Microretrognathia, Rocker bottom foot, Clinodactyly, Downturned corners of mouth, Ank...	ORPHA:488642
Scalp-Ear-Nipple Syndrome	Low-set ears, Underdeveloped tragus, Sparse hair, Sparse pubic hair, Breast aplasia, Calvarial sk...	OMIM:181270
Manitoba Oculotrichoanal Syndrome	Cryptophthalmos, Microphthalmia, Anophthalmia, Eyelid coloboma, Nasolacrimal duct obstruction, Va...	OMIM:248450
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormality of the dentition, Atrichia, Abnormal sweat gland morphology, Abnormal sebaceous gland...	OMIM:614931
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, High anterior hairline, Eruption failure, S...	OMIM:182250
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepatic failure, Left ventricular hy...	ORPHA:746
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Pectus carinatum, Atlantoaxial instability, Congenital kyphoscoliosis, Congenital hip...	ORPHA:536545
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Upslanted palpebral fissure, Cryptorchidism, Postaxial polydactyly, Epicanthus, Synophrys	OMIM:615824
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Sple...	OMIM:615673
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Fucosidosis	Low-set ears, Depressed nasal bridge, Anterior beaking of thoracic vertebrae, Hearing impairment,...	OMIM:230000
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Distichiasis, Ptosis, Microphthalmia, Ectropion, Conjunctivitis, C...	OMIM:153400
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Hepatitis, Hashimoto thyroiditis, Myositis	ORPHA:589
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab...	ORPHA:231222
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circulating propionylcarnitin...	OMIM:251110
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Cerebellar atrophy, Elbow flexion contracture, Pes cavus, Thoracic scoliosi...	OMIM:252940
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Genu valgum, Wide nose, Macrocepha...	ORPHA:3210
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Choanal atresia, Dental crowding, Depressed ...	OMIM:101600
Galloway-Mowat Syndrome 1	Low-set ears, Joint contracture of the hand, Small nail, Hypoplasia of the iris, Secondary microc...	OMIM:251300
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ...	ORPHA:20
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Widely spaced teeth, Breast aplasia, He...	ORPHA:268261
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Malar flattening, Brachycephaly, Short stature, Hydrocephalus, Abnormal locat...	OMIM:218350
Huntington Disease-Like 1	Abnormal head movements, Jerky head movements	ORPHA:157941
1P36 Deletion Syndrome	Optic atrophy, Spinal canal stenosis, Camptodactyly of finger, Joint stiffness, 11 pairs of ribs,...	ORPHA:1606
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Tubulointerstitial nep...	OMIM:251000
Moynahan Syndrome	Alopecia, Sensorineural hearing impairment, Microcephaly, Short stature, Sparse hair	ORPHA:2574
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Gen...	ORPHA:581
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia, Kyphosis	OMIM:219080
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Scoliosis, Hydrocephalus, Midline brainstem cleft	OMIM:617542
Pseudohypoparathyroidism Type 1C	Depressed nasal bridge, Ectopic ossification, Delayed eruption of teeth, Short neck, Enamel hypop...	ORPHA:79444
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Broad nasal tip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Anteverted nares, Mic...	OMIM:618548
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Sparse hair, Aplasia of the eccrine sweat glands, Frontal bossing	OMIM:300291
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:27
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:608629
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly, Macrocephaly	OMIM:300699
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Webbed neck, Low-set ears, Relative macrocephaly, Macrocephaly, Long eyelashes...	OMIM:607721
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Thoracoabdominal Syndrome	Cleft upper lip, Anencephaly, Hydrocephalus, Hypospadias, Cleft palate	OMIM:313850
Immunodeficiency 48	Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis	OMIM:269840
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Downslant...	ORPHA:46059
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri...	ORPHA:57777
Craniofaciofrontodigital Syndrome	Osteopenia, Pectus carinatum, Finger joint hypermobility, Joint hypermobility, Palmoplantar cutis...	ORPHA:363705
Premature Ovarian Failure 7	Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis	OMIM:612964
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg...	OMIM:207800
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Retrognathia, Macrocephaly, Encephalocele, Death in childhood, Death in infancy, Hy...	OMIM:614643
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Highly arched eyebrow, Low-set ears, Abnormal helix morphology, Long philtrum,...	ORPHA:1519
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Glandular hypospadias, Tarsal sy...	ORPHA:2473
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Cryptorchidism, Abnormal nasolacrimal system morphology, Abnormal metacarpal m...	ORPHA:2658
Williams Syndrome	Synostosis of joints, Genu valgum, Polycystic ovaries, Radioulnar synostosis, Osteopenia, Vertebr...	ORPHA:904
Aspartylglucosaminuria	Abnormal vertebral morphology, Abnormality of the dentition, Wide nasal bridge, Carious teeth, De...	ORPHA:93
Ring Chromosome 7 Syndrome	Narrow naris, Prominent crus of helix, Genu valgum, Narrow mouth, Lumbar kyphoscoliosis, Holopros...	ORPHA:1449
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Shwachman-Diamond Syndrome	Osteopenia, Carious teeth, Delayed eruption of teeth, Delayed skeletal maturation, Abnormal joint...	ORPHA:811
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Atypical or prolonged hepatitis, Sinusitis...	ORPHA:83471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Microcephaly, Microphthalmia, Short stature, Flexion contracture, Mild short statur...	OMIM:614833
Microcephalic osteodysplastic primordial dwarfism, type III	Pectus carinatum, Optic atrophy, Ulnar deviation of finger, Slender long bone, Hypoplasia of the ...	OMIM:210730
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Gaucher Disease Type 1	Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, Spinal cord compressio...	ORPHA:77259
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Narrow naris, Short neck, High palate, Sparse hair, Short nose, Broad nasal tip, Thin vermilion b...	OMIM:617157
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Herniation of interverte...	OMIM:157800
Propionic Acidemia	Eczematoid dermatitis, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyper...	OMIM:606054
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Toe syndactyly, Telecanthus, Eyelid coloboma, Thin upper lip vermilion, Syr...	ORPHA:140952
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Open mouth, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Up...	ORPHA:457284
Cockayne Syndrome Type 3	Adult onset sensorineural hearing impairment, Dry hair, Carious teeth, Conductive hearing impairm...	ORPHA:90324
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Media...	OMIM:157170
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dens...	OMIM:252900
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Downslanted palpebral fissures, Telecanthus, Micrognat...	OMIM:610536
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Coronal craniosynostosis, Low-set ears, Coarse hair, Retrognathia, Underdevelo...	ORPHA:83617
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Micrognathia, Cryptorchidism, Upslanted palpebral fissure, Brachydactyly, Camptodactyl...	OMIM:619123
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Cyclopia, Narrow mouth, Mandibular aplasia, Aplasia/Hypoplasia of the eyebrow, Hypo...	ORPHA:990
Wiedemann-Steiner Syndrome	Low-set ears, Postnatal growth retardation, Generalized hirsutism, High palate, Short nose, Abnor...	ORPHA:319182
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Ambigu...	OMIM:615503
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly, Mandibular prognathia	OMIM:615516
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis...	OMIM:619423
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Tapered finger, Aplasia/Hypoplasia of the ...	ORPHA:2930
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Macular coloboma, Rod-cone dystrophy	OMIM:248190
Heyn-Sproul-Jackson Syndrome	Severe short stature, Microcephaly, Intrauterine growth retardation, Sparse hair	OMIM:618724
Congenital Myopathy 13	Low-set ears, Conductive hearing impairment, Downturned corners of mouth, Micrognathia, Kyphoscol...	OMIM:255995
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Costello Syndrome	Low-set ears, Micrognathia, Limited elbow movement, Short neck, Thin nail, Curly hair, High palat...	OMIM:218040
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly	OMIM:133180
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Short palpebral fissure, Dental crowding, Downturned corners of mouth, Clinodactyl...	ORPHA:261323
Nephronophthisis 3	Hepatic fibrosis, Enlarged kidney	OMIM:604387
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Microdontia, Madelung ...	ORPHA:1765
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Hearing impairment, Thick lower lip vermilion, Thic...	ORPHA:583
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Median cleft upper lip, Ethmocephal...	OMIM:236100
Congenital Myopathy 17	Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Downslanted palpebral fissures,...	OMIM:618975
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Proximal femoral epiphysiolysis, Overlapping toe, Femoral bowing, Tented upper lip vermilion, Sma...	OMIM:616723
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl...	ORPHA:2334
Myasthenic Syndrome, Congenital, 10	Ptosis, Tongue atrophy	OMIM:254300
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, Pes planus...	ORPHA:261330
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Reduced bone mineral density, Com...	OMIM:112240
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Platyspondyly, Thin ribs, Congenital hip dislocatio...	OMIM:225400
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Bilateral choanal atresia, Underdeveloped nasal alae, Recurrent otitis media, Ankyl...	OMIM:619525
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormality of the dentition, Alopecia, Abnormal sweat gland morphology, Sparse body hair, Congen...	OMIM:602032
Japanese Encephalitis	Abnormal midbrain morphology, Genu recurvatum, Distal upper limb muscle weakness, Abnormal substa...	ORPHA:79139
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Limb undergrowth, Brachydactyly, Thi...	OMIM:617809
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Abnormal foot morphology, Tongue atrophy, Hip dislocation, Retinal dystrophy	OMIM:614678
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Type I diabetes mellitus, Chronic mucocutaneous candidiasis, ...	OMIM:240300
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Low-set ears, Hearing impairment, Delayed cranial suture closure, Pr...	OMIM:101400
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Lamellar Ichthyosis	Abnormality of the dentition, Abnormal helix morphology, Everted lower lip vermilion, Aplasia/Hyp...	ORPHA:313
Holoprosencephaly 11	Cleft lip, Thick eyebrow, Holoprosencephaly, Cleft palate, Synophrys	OMIM:614226
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Pontocerebellar Hypoplasia, Type 11	Talipes equinovarus, Anal atresia, Coloboma, Pes planus	OMIM:617695
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Growth delay, Microphthalmia	OMIM:278780
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Inflammation of the large intestine, Postaxial polydactyly, Epicanthus, Enamel hyp...	OMIM:614576
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Lig4 Syndrome	Wide nasal bridge, Growth delay, Micrognathia, Low anterior hairline, Microcephaly, Brachycephaly...	ORPHA:99812
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Plagiocephaly, Atres...	ORPHA:2673
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ...	ORPHA:90062
Mucopolysaccharidosis Type 7	Ascites, Splenomegaly, Hepatitis	ORPHA:584
Sclerosteosis 1	Broad clavicles, Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Faci...	OMIM:269500
Arnold-Chiari Malformation Type I	Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused...	ORPHA:268882
Mucopolysaccharidosis, Type X	Platyspondyly, Wide nasal bridge, Diastema, Long philtrum, Open bite, Widely spaced teeth, Irregu...	OMIM:619698
Prader-Willi Syndrome	Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus, Hypercholes...	OMIM:176270
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Cryptorchidism, Bilateral single transverse palmar creases, Epi...	OMIM:620450
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
Craniofacioskeletal Syndrome	Small hand, Short palpebral fissure, Downslanted palpebral fissures, Micrognathia, Hypoplastic fr...	OMIM:300712
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Reduced peroxisomal glutaryl-CoA ...	OMIM:231670
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia	OMIM:619471
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Plagiocephaly, Brachycephaly, Sparse hair, Scoliosis	OMIM:619910
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Fanconi Anemia, Complementation Group I	Short neck, Fused cervical vertebrae	OMIM:609053
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Open mouth, Narrow mouth, M...	ORPHA:468678
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Hearing impairment, Postnatal growth retardation, Sparse eyebrow, Downturned cor...	ORPHA:487796
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Micrognathia, Cur...	OMIM:301022
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly	OMIM:603902
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Tongue atrophy, Retinopathy	ORPHA:216873
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Developmental And Epileptic Encephalopathy 65	Highly arched eyebrow, Plagiocephaly, Tented upper lip vermilion, Microcephaly	OMIM:618008
Achondrogenesis, Type Ib	Hypoplastic ilia, Umbilical hernia, Micromelia, Short ribs	OMIM:600972
Hypotrichosis And Recurrent Skin Vesicles	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, An...	OMIM:613102
Brachydactyly, Type E1	Multiple impacted teeth, Moderately short stature	OMIM:113300
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Growth delay, Thick eyebrow, Protruding ear, Microcephaly, Everted lower lip vermi...	OMIM:615471
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Short palpebral fissure, Hip subluxation, Long philtrum, Bilateral cryptorchidism,...	OMIM:613457
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Hearing impairment, Growth delay, Hypoplastic ...	OMIM:614749
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Microsporidiosis	Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit...	ORPHA:2552
Odontomicronychial Dysplasia	Slow-growing nails, Short nail, Premature eruption of permanent teeth, Thin nail	OMIM:601319
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Tooth malposition, Flared nostrils, Low-set ears, Limitation of joint mobility, ...	ORPHA:480880
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon, Microphthalmia	OMIM:123570
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis, Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies	OMIM:219090
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia,...	OMIM:270400
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly	OMIM:618852
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Webbed neck, Unossified sacrum,...	ORPHA:3003
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Death in infancy, Sensorineural hearing impairment, Joint con...	OMIM:300406
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Finger clinodactyly, Abnormal brainstem morphology, Cerebell...	ORPHA:8
Classic Galactosemia	Osteoporosis, Reduced bone mineral density	ORPHA:79239
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Tooth malposition, Osteopenia, Choanal atresia, Hearing impairment, Patholo...	OMIM:156400
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Depressed nasal bridge, Conical tooth, Absent nipple, Sparse lateral eyebrow, Sparse body hair, S...	OMIM:614941
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556037
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Hydrocephalus, ...	ORPHA:322
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Ambiguous genitalia, female, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Fused...	ORPHA:2975
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Genitopatellar Syndrome	Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Hearing impairment, Pro...	OMIM:606170
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Nephritis, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Macrovesicular hepat...	OMIM:617303
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia	ORPHA:90065
Glutamine Deficiency, Congenital	Thin vermilion border, Camptodactyly, Micromelia	OMIM:610015
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Bifid uterus, Cleft palate	ORPHA:2736
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphyseal widening, ...	OMIM:612813
Adenylosuccinase Deficiency	Low-set ears, Growth delay, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth phi...	OMIM:103050
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Cryptorchidism, Broad foot, Talipes equinovarus, 2...	OMIM:312870
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Plagiocephaly, Conductive hearing impairment, Re...	ORPHA:2785
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen...	ORPHA:90038
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Downslanted palpebral fissures, Bilateral ptosis, Bulbous tip...	ORPHA:163979
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Orofaciodigital Syndrome Xvi	Postaxial foot polydactyly, Molar tooth sign on MRI, Postaxial hand polydactyly	OMIM:617563
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Male pseudohermaphroditism, Ambiguou...	OMIM:201810
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Joint hypermobility, Protruding ear, Microcephaly, Brachycephaly, Acce...	OMIM:618798
Houge-Janssens Syndrome 3	Broad nasal tip, Plagiocephaly, Umbilical hernia, Macrocephaly, Microcephaly, High palate, Short ...	OMIM:618354
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Long philtrum, Micrognathia, Tented upper lip vermilion, Single transverse palmar ...	OMIM:617527
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Aplasia/Hypoplasia of the spl...	ORPHA:227990
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h...	OMIM:615453
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death in childhood, Microphthalmia	OMIM:301108
Classical-Like Ehlers-Danlos Syndrome Type 2	Periodontitis, Keratoconjunctivitis sicca, Diabetes mellitus, Hypertriglyceridemia	ORPHA:536532
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Epicanthus, Chordee, Abn...	ORPHA:1772
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
C Syndrome	Toe syndactyly, Micromelia, Long philtrum, Dislocated radial head, Gingival overgrowth, Female ps...	ORPHA:1308
Meier-Gorlin Syndrome 3	Small scrotum, Clitoral hypertrophy, Microretrognathia, Slender long bone, Patellar hypoplasia, D...	OMIM:613803
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, Frontal bossing, Bulbous nose, Intrauterine growth retardation, Joint contracture o...	OMIM:619934
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology	ORPHA:411493
Cutis Laxa, Autosomal Recessive, Type Ib	Downslanted palpebral fissures, Micrognathia, Arachnodactyly, Bowing of the long bones, Spina bif...	OMIM:614437
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Insulin-resistant diabetes mellitus, Insulin resist...	ORPHA:90301
Ebola Hemorrhagic Fever	Maculopapular exanthema, Acute pancreatitis, Hepatitis	ORPHA:319218
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Progressive Supranuclear Palsy-Corticobasal Syndrome	Jerky head movements	ORPHA:240103
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Abnormal cerebellum morphology	ORPHA:255182
Hartnup Disorder	Glossitis	OMIM:234500
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Anterior Segment Dysgenesis 2	Aniridia, Congenital aphakia, Coloboma, Anterior segment of eye aplasia, Microphthalmia	OMIM:610256
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Hepatitis	ORPHA:1334
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Rickets, Wrist swelling, Kyphosis, Osteomalacia, Ca...	OMIM:309000
Desmosterolosis	Rhizomelia, Joint contracture of the hand, Downslanted palpebral fissures, Ambiguous genitalia, f...	OMIM:602398
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Small scrotum, Highly arched eyebrow, Cleft lip, Lacrimal duct apla...	OMIM:618454
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Ear-Patella-Short Stature Syndrome	Clitoral hypertrophy, Elbow dislocation, Micrognathia, Narrow mouth, Cryptorchidism, Patellar apl...	ORPHA:2554
Hypotrichosis 13	Abnormal sweat gland morphology, Abnormal dental morphology, Sparse eyelashes, Woolly hair, Spars...	OMIM:615896
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev...	ORPHA:48435
Galloway-Mowat Syndrome 3	Downslanted palpebral fissures, Micrognathia, Narrow mouth, Arachnodactyly, Hiatus hernia, Epican...	OMIM:617729
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Breast aplasia, Abnormal fingernail morp...	ORPHA:2036
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Abnormally large globe, Broad nasal tip, Hypertrichosis, Postnatal growth retardati...	ORPHA:1655
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Bulbous nose, Intrauterine growth retardation, Thin vermilion border, Short sta...	OMIM:300869
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556030
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis, Clinodactyly, Micrognathia, Tented upp...	OMIM:618460
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Ele...	ORPHA:2331
Alg12-Cdg	Posterior plagiocephaly, Small nail, Intrauterine growth retardation, Micrognathia, Prominent nas...	ORPHA:79324
Leri Pleonosteosis	Genu recurvatum, Severe short stature, Abnormal form of the vertebral bodies, Elbow dislocation, ...	ORPHA:2900
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Ridged nail, Nail dystrophy...	OMIM:127550
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Coloboma, Microphthalmia	OMIM:612379
Gitelman Syndrome	Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc...	ORPHA:358
Microform Holoprosencephaly	Duodenal atresia, Cyclopia, Tented upper lip vermilion, Solitary median maxillary central incisor...	ORPHA:280200
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal malrotation, Hallux varus,...	ORPHA:93260
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Abnormality of the dentition, Small hand, Short distal phalanx of f...	ORPHA:1596
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cleft lip, Umbilical hernia, Downslanted palpebral fissures, Genu valgum, Ope...	OMIM:301066
Ring Chromosome 13 Syndrome	Bifid scrotum, Abnormality of the incisor, Aplasia/hypoplasia involving bones of the hand, Microg...	ORPHA:96176
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Retrognathia, Prominent nose, Prominent nasal bridge, Malar fla...	OMIM:601552
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Abnormal hip bone morphology, Arachnodactyly, Aplasia/Hypoplasia o...	ORPHA:2720
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co...	ORPHA:355
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Chand Syndrome	Depressed nasal bridge, Agenesis of permanent teeth, Nail dysplasia, Abnormal oral frenulum morph...	ORPHA:1401
Leptospirosis	Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He...	ORPHA:509
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c...	ORPHA:99829
Non-Acquired Isolated Growth Hormone Deficiency	Depressed nasal bridge, Delayed skeletal maturation, Genu valgum, Delayed puberty, Short stature,...	ORPHA:631
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Posterior plagiocephaly, Short neck, Prominent nasal tip, High palate, Short nose, Broad nasal ti...	OMIM:620330
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hyperammonemia, Infectious encephalitis	ORPHA:1194
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Proximal muscle weakness in upper limbs, Difficulty in tongue movements, Distal up...	ORPHA:99956
Loeys-Dietz Syndrome 2	Pectus carinatum, Joint contracture of the hand, Dural ectasia, Abnormal sternum morphology, Umbi...	OMIM:610168
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis	ORPHA:445038
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia, Chronic sinusitis, Sensorineural hearing im...	OMIM:615636
Marfan Syndrome	Osteopenia, Pectus carinatum, Dural ectasia, Reduced bone mineral density, Spondylolisthesis, Lim...	ORPHA:558
Bilateral Perisylvian Polymicrogyria	Micrognathia, Protruding tongue	ORPHA:98889
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Elevated circulating C-reactive pro...	OMIM:617388
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap...	ORPHA:436
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Short distal phalanx of finger, Multiple joint contractures, Thoracic scoliosis, Brac...	ORPHA:2959
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Aplasia/Hypoplasia of the spl...	ORPHA:227982
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Sple...	OMIM:619381
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Sandwich appearance of vert...	OMIM:602080
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Preaxial hand polydactyly, Microphthalmia, Cryptorchidism, Partial dup...	OMIM:227646
Camptobrachydactyly	Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture...	OMIM:114150
Papillon-Lefèvre Syndrome	Abnormality of the dentition, Periodontitis, Atrophy of alveolar ridges, Tooth agenesis, Sparse b...	ORPHA:678
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Hypoplasia of the uterus, Telecanthus, Ptosis, Blepharophimosis, Narrow pa...	OMIM:110100
Okamoto Syndrome	Anal stenosis, Abnormally large globe, Exaggerated median tongue furrow, Downturned corners of mo...	ORPHA:2729
Distal Deletion 19P	Umbilical hernia, Thick eyebrow, Arachnodactyly, Long toe, Vaginal hernia, Short philtrum, Cleft ...	ORPHA:96129
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Splenomeg...	ORPHA:457077
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Camptodactyly of finger, Intrauterine growth retardation, Brachycephaly, Hydroceph...	ORPHA:272
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Delayed eruption of teeth, Hearing impairment, Rhiz...	ORPHA:508542
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Osteoporosis	OMIM:620532
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Reactive hypoglycemia, Hyperuricemia...	ORPHA:469
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
6Q Terminal Deletion Syndrome	High, narrow palate, Highly arched eyebrow, Plagiocephaly, Low-set, posteriorly rotated ears, Mac...	ORPHA:75857
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Elevated circulating creatinine concentration, Chronic tubulointerstitial nephritis...	OMIM:614376
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus, Abnormal circulating lipid concentration	OMIM:616541
Mosaic Variegated Aneuploidy Syndrome	Downslanted palpebral fissures, Vaginal neoplasm, Micrognathia, Stomach cancer, Intestinal polypo...	ORPHA:1052
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia, Kyphosis	OMIM:610489
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abnormal circulating enzym...	ORPHA:17
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Narrow mouth, Cryptorchidism, Micro...	ORPHA:3404
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo...	OMIM:602196
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Short neck, Long nose, Dislocated radial head, Hypoplasia of the max...	ORPHA:2044
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Agnathia-Otocephaly Complex	Microglossia, Downslanted palpebral fissures, Aglossia, Micrognathia, Narrow mouth, Mandibular ap...	OMIM:202650
Huntington Disease-Like 3	Flexion contracture, Abnormal head movements	ORPHA:157946
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Short palpebral fissure, Epicanthus inversus, Uterus didelphys, Long philtr...	OMIM:618820
Dengue Fever	Hepatomegaly, Hypoproteinemia, Skin rash, Ascites	ORPHA:99828
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Severe short stature, Downturned corners of mouth, R...	ORPHA:3015
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Long philtrum, Delayed sk...	OMIM:618419
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Hepato...	OMIM:607594
Werner Syndrome	Small hand, Joint stiffness, Abnormal thorax morphology, Osteoporosis, Rocker bottom foot, Increa...	ORPHA:902
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Thin upper lip vermilion...	OMIM:608688
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Everted lower lip vermilion, Flexion contracture, Spars...	OMIM:242300
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Hemimegalencephaly	Macrocephaly, Cranial asymmetry	ORPHA:99802
Fraser Syndrome 2	Intestinal malrotation, Cryptophthalmos, Narrow mouth, Ambiguous genitalia, Cutaneous syndactyly,...	OMIM:617666
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Finger syndactyly,...	ORPHA:2907
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Microphallus, Cryptorchidism, 2-3 finger syndactyly, Hypoplasia of the...	OMIM:603467
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620125
Keppen-Lubinsky Syndrome	Abnormally large globe, Underdeveloped nasal alae, Narrow naris, Postnatal growth retardation, Na...	ORPHA:435628
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Glycosuria, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Developmental And Epileptic Encephalopathy 110	Low-set ears, Posterior plagiocephaly, Tented upper lip vermilion, Microcephaly, High palate, Mac...	OMIM:620149
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:398079
Robinow-Sorauf Syndrome	Plagiocephaly, Narrow nose, Malar flattening, Craniosynostosis, Long nose, Pansynostosis	OMIM:180750
Marden-Walker Syndrome	Low-set ears, Bifid uvula, Severe short stature, Growth delay, Retrognathia, Abnormal form of the...	ORPHA:2461
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, Cleft soft palate, Micrognathia, Short...	OMIM:117650
Holoprosencephaly 14	Cleft lip, Alobar holoprosencephaly, Median cleft upper lip, Hydrocephalus, Aqueductal stenosis, ...	OMIM:619895
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Abnormal eyelid morphology, Macroglossia, Glossitis, Ovarian neoplasm	ORPHA:2221
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Hemivertebrae...	OMIM:258040
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Supernumerary nipple, Brachycephaly, Overfolded helix, Wide mouth, Synophrys	OMIM:616083
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Rod-cone dystrophy, Polydactyly	OMIM:616307
Pfeiffer Syndrome Type 1	Low-set ears, Depressed nasal bridge, Hearing impairment, Bicoronal synostosis, Brachycephaly, Aq...	ORPHA:93258
Kid Syndrome	Trichilemmoma, Prelingual sensorineural hearing impairment, Postnatal growth retardation, Psorias...	ORPHA:477
Auriculocondylar Syndrome 3	Micrognathia, Bifid uvula, Glossoptosis, Ectropion	OMIM:615706
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system	OMIM:257910
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Transketolase Deficiency	Type I diabetes mellitus, Elevated circulating ribitol concentration, Seborrheic dermatitis, Hepa...	ORPHA:488618
Birk-Barel Syndrome	Bifid uvula, Highly arched eyebrow, Microretrognathia, Long eyelashes, Tented upper lip vermilion...	OMIM:612292
Cowden Syndrome 6	Varicocele, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Angioid streaks of ...	OMIM:615109
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Enlarged polycystic ovaries, Osteoporosis	ORPHA:785
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Conductive hearing impairment, Prominent nasal bridge, Tented upper lip vermilion, ...	OMIM:618885
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Menkes Disease	Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Intrauterine growth retardation, Micrognathia...	ORPHA:565
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Short ear, Bulbous nose, Anteverted nares, Narrow mouth...	ORPHA:314647
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Brachydactyly, Mesomelia	ORPHA:171866
Aspartylglucosaminuria	Platyspondyly, Depressed nasal bridge, Spondylolysis, Delayed skeletal maturation, Thick lower li...	OMIM:208400
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Growth delay, Genu valgum, Frontal upsweep of hair, Joint hypermobility,...	OMIM:617798
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97283
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho...	OMIM:266920
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, Dural ectasia, Camptodactyly of finger, Umbilical hernia, Spondylolisthesis, In...	ORPHA:284984
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly,...	OMIM:619479
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-reactive prote...	OMIM:613011
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy, Amyotrophic lateral sclerosis	OMIM:613435
Pyruvate Dehydrogenase E2 Deficiency	Microcephaly, Jerky head movements	OMIM:245348
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Umbilical hernia, Downslanted palpebral fissures, Patellar aplasia...	OMIM:616835
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa...	ORPHA:73263
Pyruvate Dehydrogenase E1-Alpha Deficiency	Talipes, Limb undergrowth, Single transverse palmar crease, Pes cavus	ORPHA:79243
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies, Abnormal rib morph...	ORPHA:93941
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Flexion contracture, Short foot, Scoliosis, ...	ORPHA:398069
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Normosmic Congenital Hypogonadotropic Hypogonadism	Abnormality of the dentition, Osteopenia, Depressed nasal bridge, Delayed skeletal maturation, Sp...	ORPHA:432
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Microcephaly, Thin nail,...	OMIM:617799
Marcus-Gunn Syndrome	Cleft lip, Coloboma, Unilateral ptosis, Cleft palate, Morning glory anomaly	ORPHA:91412
Toriello-Carey Syndrome	Low-set ears, Sparse eyebrow, Hearing impairment, Anotia, Postnatal growth retardation, Micrognat...	ORPHA:3338
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly	ORPHA:66661
Polymicrogyria Due To Tubb2B Mutation	Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons	ORPHA:300573
Fetal Akinesia Deformation Sequence 1	Micrognathia, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Elbow ankylosis...	OMIM:208150
Acrofacial Dysostosis, Cincinnati Type	Median pseudocleft lip, Micrognathia, Cryptorchidism, Epicanthus, Aqueductal stenosis, High palat...	OMIM:616462
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Elevated circulating creatine kinase con...	OMIM:617713
Anterior Segment Dysgenesis 7	Buphthalmos, Iris coloboma, Microphthalmia	OMIM:269400
Jung Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Low posterior h...	ORPHA:2321
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Biotinidase Deficiency	Hyperammonemia, Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase...	OMIM:253260
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad...	ORPHA:95496
Functioning Gonadotropic Adenoma	Osteopenia, Ovarian cyst, Enlarged polycystic ovaries, Hydrocephalus, Osteoporosis	ORPHA:91348
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Hypoplasia of the ear cartilage, Macrotia, Trichorrhexis nodosa, Spa...	ORPHA:113
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Splenomegaly	OMIM:615631
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
Glycosylphosphatidylinositol Biosynthesis Defect 25	Ankle flexion contracture, Coarse hair, Death in childhood, Short stature, Sparse hair	OMIM:619985
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in upper limbs, Hand muscle weakness, Distal upper limb amyotrophy, Cerv...	ORPHA:101085
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Vertebral segmentation defect, Talipes ...	ORPHA:2970
Native American Myopathy	Bifid uvula, Downturned corners of mouth, Downslanted palpebral fissures, Bilateral ptosis, Micro...	ORPHA:168572
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral ...	OMIM:618188
Achard Syndrome	Brachycephaly, Micrognathia, Broad skull, Joint hypermobility	OMIM:100700
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Biconcave flattene...	OMIM:166220
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Choanal atresia, Hydrocephalus	OMIM:612247
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin...	ORPHA:79474
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic...	OMIM:260370
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus	OMIM:241080
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Multiple joint contractures, Eclabion, Sparse hair	ORPHA:100976
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Talipes, Short foot, Downturned corners of mouth, Downslanted palpebral...	OMIM:301044
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Depressed nasal bridge, Hearing impairment, Gout, Death in childhood, Sensorineural...	OMIM:300661
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Polydactyly, Narrow palpebral fissure, Thin vermilion border, Optic disc pallor, ...	OMIM:619869
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Eyelid coloboma, Cryptorchidism, Hydrocephalus, Microphthalmia, Limbal de...	OMIM:613001
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Downturned corners of mouth, Recurrent ot...	OMIM:619680
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis,...	ORPHA:391487
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Angioid streaks of the fundus, ...	OMIM:615108
Ogden Syndrome	Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Microvesicular hepatic steatos...	OMIM:300855
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Pes cavus, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Scapu...	OMIM:620285
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h...	OMIM:619306
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Hearing impairment, Relative macrocephaly, Microcephaly, Brachycephaly, Hydrocepha...	ORPHA:500055
Sandifer Syndrome	Abnormal head movements, Decreased cervical spine mobility	ORPHA:71272
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97282
Burning Mouth Syndrome	Strawberry tongue, Tongue pain, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Webbed neck, Sparse eyebrow, Broad nasal tip, Plagiocephaly, Supernumerary nipple, Abnormal finge...	ORPHA:1521
Matthew-Wood Syndrome	Low-set ears, Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:2470
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, High palate, Shor...	OMIM:601776
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Buphthalmos, High palate, Limb undergrowth, Hip dislocation	OMIM:618005
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Psoriasiform dermatitis, Hashimoto thyro...	ORPHA:436252
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Reduced subcutaneous adipo...	OMIM:609069
Niemann-Pick Disease, Type A	Osteoporosis	OMIM:257200
Osteogenesis Imperfecta, Type Vii	Osteopenia, Narrow chest, Rhizomelia, Micromelia, Crumpled long bones, Protrusio acetabuli, Decre...	OMIM:610682
Oculotrichoanal Syndrome	Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia	ORPHA:2717
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Sparse hair	ORPHA:1839
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Hearing impairment, Recurrent otitis media, Postnata...	OMIM:147920
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Pneumonia, Increased circulating cortisol level	ORPHA:97287
Hunter-Macdonald Syndrome	Joint contracture of the hand, Conductive hearing impairment, Delayed skeletal maturation, Delaye...	OMIM:611962
Woodhouse-Sakati Syndrome	Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus	ORPHA:3464
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Large earlobe, Smooth philtrum, Microcephaly, Synophrys	OMIM:618792
Hurler Syndrome	Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ...	ORPHA:93473
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent upper respiratory tract infections, Frontal bossing, Persistence of primary...	OMIM:147060
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Open mouth, High, narrow palate, Plagiocephaly, Synostosis involving the 1s...	ORPHA:466791
Lig4 Syndrome	Wide nasal bridge, Prominent nose, Psoriasiform dermatitis, Chronic sinusitis, Low anterior hairl...	OMIM:606593
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Neonatal hypoglycemia, Hepatic steatosis	OMIM:616271
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Psoriasiform dermatitis, Interface hepatitis, Enterocolitis	OMIM:243150
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Type I diabetes mellitus, Inflammation of the large intestine, Ato...	ORPHA:436159
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Talipes valgus, Narrow nose, Intrauterine growth retardation, Submucous cleft hard pal...	OMIM:618891
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis, Hepatomegaly, Conjunctiviti...	OMIM:142680
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Decreased methionine syn...	OMIM:277380
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteoporosis, Osteopenia	OMIM:615830
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypoproteinemia, Ascites, Hypoalbuminemia	OMIM:226300
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Umbilical hernia, Short neck, Hyperlor...	ORPHA:3218
Sotos Syndrome	Abnormal vertebral morphology, Small nail, Hearing impairment, Hip contracture, Chronic otitis me...	ORPHA:821
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Polydactyly	OMIM:616562
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Mandibular prognathia, Downturned corners of mouth, Macrotia, Long ear, M...	ORPHA:85276
Cowden Syndrome 1	Varicocele, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Angioid streaks of ...	OMIM:158350
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes ...	ORPHA:64
Choreoacanthocytosis	Blepharospasm, Peroneal muscle atrophy, Equinovarus deformity, Absent Achilles reflex, Protruding...	ORPHA:2388
Treacher Collins Syndrome 1	Sparse lower eyelashes, Bilateral microphthalmos, Downslanted palpebral fissures, Cleft soft pala...	OMIM:154500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:98754
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Posterior plagiocephaly, Abnormally large globe, Kyphoscoliosis	ORPHA:96190
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Xerostomia, Glossitis, Hamartomatous polyposis, Clubbing, Clubbing of...	OMIM:175500
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis	ORPHA:98850
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Decreased liver function, Increased intramyocellular lipid droplets, Hepatomegaly, In...	OMIM:220110
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	2-3 toe cutaneous syndactyly, Micrognathia, Narrow mouth, Down-sloping shoulders, Long fingers, N...	OMIM:301091
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Wide nasal bridge, Small nail, Long phi...	OMIM:231050
Semilobar Holoprosencephaly	Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Cyclopia, Median cleft upper lip, Solitary median maxillary central incisor, Hydroce...	ORPHA:93924
Perrault Syndrome 4	Osteoporosis, Cubitus valgus	OMIM:615300
Prader-Willi Syndrome	Osteopenia, Small hand, Increased susceptibility to fractures, Hip dysplasia, Osteoporosis, Short...	ORPHA:739
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Norrie Disease	Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal detachment, Microphthalmia, Retinal f...	OMIM:310600
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Hyperglycemia, Hyperlipidemia, Infectiou...	ORPHA:293987
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Increased circulating lactate dehydrogenase concentrati...	ORPHA:447
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Bifid Nose With Or Without Anorectal And Renal Anomalies	Low-set ears, Bulbous nose, Thick eyebrow, Short lingual frenulum, Brachycephaly, Posteriorly rot...	OMIM:608980
Autoimmune Lymphoproliferative Syndrome	Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer...	ORPHA:3261
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Upslanted palpebral fissure, Abnormal palat...	ORPHA:3241
Placental Insufficiency	Insulin resistance	ORPHA:439167
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:98793
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Phthisis bulbi, Buphthalmos, Remnants of the hyaloid vascular system, Micr...	OMIM:221900
Hypotrichosis 12	Abnormality of the dentition, Sparse pubic hair, Dry hair, Abnormal sweat gland morphology, Spars...	OMIM:615885
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Ulnar-Mammary Syndrome	Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger...	OMIM:181450
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Mowat-Wilson Syndrome	Wide nasal bridge, Tooth malposition, Cupped ear, Delayed eruption of teeth, Widely spaced teeth,...	OMIM:235730
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:177904
Immunodeficiency 12	Osteoporosis, Clubbing	OMIM:615468
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small hand, Hip dysplasia, Osteoporosis, Short foot, Scoliosis	ORPHA:177901
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:619424
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Single transverse palmar crease, Microphthalmia	OMIM:619053
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Stom...	ORPHA:97280
Steinert Myotonic Dystrophy	Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype...	ORPHA:273
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99413
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Aica-Ribosiduria	Thin upper lip vermilion, Low-set ears, Brachycephaly, Wide mouth	ORPHA:250977
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle...	ORPHA:319675
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Methy...	OMIM:251100
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,...	ORPHA:1433
Omenn Syndrome	Pneumonia, Splenomegaly, Erythroderma, Hepatomegaly, Hypoproteinemia	OMIM:603554
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Structural foot deformity, Duodenal atresia, Cryptorchidism, Polydactyly, Arachno...	ORPHA:464306
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Thrombocytopenia 6	Osteoporosis, Myelofibrosis	OMIM:616937
Alg3-Cdg	Neural tube defect	ORPHA:79321
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Microcephaly, Brachycephaly	OMIM:309541
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Prominent occiput	ORPHA:1665
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Bilateral sensorineural hearing impairment, High ...	OMIM:619475
Fanconi Anemia, Complementation Group N	Absent thumb, Short thumb, Epicanthus, Hypoplasia of the radius, Microphthalmia, Anal atresia	OMIM:610832
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Anonychia, Elbow dislocation, Hemivertebrae	ORPHA:1112
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo...	ORPHA:68
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l...	OMIM:614946
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit...	ORPHA:3260
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Abnormal circulating enzyme concentrat...	ORPHA:308552
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly	ORPHA:134
Reynolds Syndrome	Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, He...	ORPHA:779
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Elbow flexion contracture, Pes cavus, Talipes equinovarus, Achilles...	OMIM:617114
Tubulinopathy-Associated Dysgyria	Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia	ORPHA:467166
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Cryptorchidism, Epicanthus, Absent radius, Microphthalmia, Hypergonado...	OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Encephalocele, Retinal detachment, Hydrocephalus, Microphthalmia, Retinal dysplasi...	OMIM:253800
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2235
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis	ORPHA:91139
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Joint contracture of the hand, Foot joint contracture, Secondary micr...	ORPHA:456312
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Cryptorchidism, Absent radius, Microphthalmia, Hypergonadotropic hypog...	OMIM:600901
Faciocardiorenal Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Narrow mouth, Protruding ear, Smooth...	ORPHA:1973
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Downslanted palpebral fissures, Pes cavus, Preaxial polydactyly	ORPHA:163681
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane...	OMIM:131100
Band Heterotopia	Plagiocephaly, Hydrocephalus, Macrocephaly	OMIM:600348
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Optic atrophy, Broad femoral neck, Broad ribs, Sclerosis of skull base, Optic nerv...	OMIM:619727
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Low alkaline phosphatase, Splenomegaly, Decreased serum zinc	OMIM:201100
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Bulbous nose, Reduced bone mineral density, Nail dysplasia, Microcephaly, Macrocephaly, Sparse ha...	OMIM:616682
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Flexion contracture of digit, Woolly hair, Sparse hair	OMIM:619208
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Femoral bowing, Tibial bowing, Palmoplantar cutis laxa, Hydrocephalus, Mesomelia, Ute...	OMIM:616482
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph...	ORPHA:98755
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia	ORPHA:99879
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Abnormal circulating porphyrin concentration, Splenomegaly, Reduced hapt...	ORPHA:79277
Fabry Disease	Left ventricular hypertrophy, Hyperlipidemia, Arthritis, Abnormal circulating lipid concentration	ORPHA:324
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly, Pericarditis	ORPHA:163596
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Cryptorchidism, Absent radius, Microphthalmia, Hypergonadotropic hypog...	OMIM:227650
Viss Syndrome	Low-set ears, Recurrent joint dislocation, Micrognathia, Cleft soft palate, Genu valgum, Contract...	OMIM:619472
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly	ORPHA:459074
Hypomandibular Faciocranial Dysostosis	Aglossia, Micrognathia, Optic disc coloboma, Pursed lips	OMIM:241310
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Optic nerve hypoplasia, Plagiocephaly, Hearing impairment, Relative macrocepha...	OMIM:620455
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Multiple unerupted teeth, Odontoma, Supernumerary tooth	ORPHA:79665
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Optic atrophy, Abnormal optic nerve morpho...	ORPHA:99949
Familial Mediterranean Fever	Erysipelas, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Elevated circulating C-reactive...	OMIM:249100
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Steatorrhea	OMIM:617941
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Familial Adenomatous Polyposis 1	Carious teeth, Odontoma, Eruption failure, Supernumerary tooth	OMIM:175100
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Macrocephaly	OMIM:618725
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Elevated circulating creatinine concentration, Hepatosplenomegaly, Decr...	ORPHA:85450
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Dpagt1-Cdg	Optic atrophy, Clinodactyly, Diffuse optic disc pallor, Arachnodactyly, Camptodactyly, Osteoporos...	ORPHA:86309
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Eczematoid der...	OMIM:615688
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Splenomegaly, Crohn's disease...	OMIM:616100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Retinal dystrophy, Microphthalmia	OMIM:616538
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Median cleft palate, Abnormal digit morphology, Polydactyly, Hypogonad...	ORPHA:95494
Ablepharon-Macrostomia Syndrome	Low-set ears, Microtia, first degree, Microtia, third degree, Hypoplasia of the zygomatic bone, H...	OMIM:200110
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum	ORPHA:79279
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Legius Syndrome	Male urethral meatus stenosis, Xanthelasma, Polydactyly, Clinodactyly of the 5th finger, Ovarian ...	ORPHA:137605
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma...	OMIM:609049
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Pectus carinatum, Dural ectasia, Abnormal sternum morphology, Umb...	OMIM:613795
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Oligodontia, Hypodontia, Everted lower lip vermilion, Brittle hair, S...	OMIM:614940
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, Brachyturricephaly, Lumbar hyperlordosis, Joint hypermobility, Thin upper lip...	ORPHA:522077
Diphallia	Scoliosis, Butterfly vertebrae, Hemivertebrae	ORPHA:227
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Pes cav...	OMIM:148210
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Umbilical hernia, Hypopituit...	ORPHA:226307
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand...	ORPHA:1647
Isolated Complex I Deficiency	Hepatomegaly, Increased serum pyruvate, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Osteopetrosis, Autosomal Recessive 8	Macrocephaly, Unilateral microphthalmos, Osteopetrosis, Frontal bossing	OMIM:615085
Shwachman-Diamond Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuff...	OMIM:260400
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Sensorineural hearing impairment, Pili torti...	ORPHA:202
Primary Sjögren Syndrome	Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M...	ORPHA:289390
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Syringomyelia, Posterior rib fusion, Butterfly vertebrae, Neonatal death	OMIM:265380
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia	OMIM:229700
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Shukla-Vernon Syndrome	Wide nasal base, Sparse hair	OMIM:301029
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Chorioretinal atrophy, Cho...	ORPHA:1051
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hepatic steatosis	OMIM:619321
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Abnormality of the dentition, Alopecia universalis, Carious teeth, Chapped lip, Abno...	ORPHA:158668
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Microcephaly, Plagiocephaly	OMIM:614563
Esophageal Atresia	Barrett esophagus, Cleft lip, Clinodactyly, Intestinal malrotation, Esophagitis, Tracheoesophagea...	ORPHA:1199
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Dental crowding, Brachycephaly, Short philtrum, Frontal bossing	OMIM:617296
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Hearing impairment, Increased vertebral height, Sensorineural hearing impairment, Camptodactyly o...	OMIM:610474
Bohring-Opitz Syndrome	Optic atrophy, Cleft lip, Prominent palatine ridges, Micrognathia, Retinal atrophy, Coloboma, Met...	ORPHA:97297
Gangliocytoma	Abnormal brainstem morphology, Abnormal cerebellum morphology, Syringomyelia, Scoliosis, Spinal c...	ORPHA:251937
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Abnormal earlobe morphology, Hypoplastic fingernail, Umbilical hernia, Postnatal gr...	ORPHA:96191
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Hydrocephalus	OMIM:219730
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis	OMIM:619652
Refractory Celiac Disease	Osteoporosis	ORPHA:398063
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Short finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Lo...	ORPHA:459070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Micrognathia, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Col...	OMIM:253280
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recurrent aphthous stomatitis...	OMIM:233600
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Loeys-Dietz Syndrome 1	Bifid uvula, Dural ectasia, Downslanted palpebral fissures, Micrognathia, Arachnodactyly, Talipes...	OMIM:609192
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Immunodeficiency 98 With Autoinflammation, X-Linked	Type I diabetes mellitus, Recurrent otitis media, Recurrent aphthous stomatitis, Splenomegaly, He...	OMIM:301078
Joubert Syndrome 38	Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:619476
Dyskeratosis Congenita, Autosomal Dominant 3	Osteoporosis, Osteopenia, Avascular necrosis of the capital femoral epiphysis	OMIM:613990
Yunis-Varon Syndrome	Low-set ears, Micrognathia, Anterior concavity of thoracic vertebrae, Sparse eyelashes, Decreased...	OMIM:216340
Cowden Syndrome	Abnormal penis morphology, Palmoplantar keratoderma, Abnormality of the uterus, Furrowed tongue, ...	ORPHA:201
Noonan Syndrome 1	High, narrow palate, Webbed neck, Low-set ears, Dental malocclusion, Hearing impairment, Postnata...	OMIM:163950
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets	OMIM:212750
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Hypodontia, Aplasia of the sweat glands, Sparse hair, Frontal bossing, Sparse scal...	OMIM:612132
Kallmann Syndrome-Heart Disease Syndrome	Osteoporosis, Osteopenia	ORPHA:2326
Ifap Syndrome 2	Angular cheilitis, Atrichia, Sparse hair, Nail dystrophy	OMIM:619016
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Abnormal scrotal rugation, Microphallus, Gonadal dysgenesis,...	ORPHA:284339
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Hearing impairment, Erythematous oral mucosa, Furrowed tongue, Chronic mon...	OMIM:158310
Transcobalamin Ii Deficiency	Hepatomegaly, Hyperhomocystinemia	OMIM:275350
Congenital Short Bowel Syndrome	Short stature, Sparse hair	ORPHA:2301
Bloom Syndrome	Insulin resistance, Pneumonia, Otitis media, Skin rash, Rhinitis, Cheilitis, Diabetes mellitus, U...	ORPHA:125
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho...	OMIM:300868
Holoprosencephaly 3	Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Cyclopia, Holoprosencephaly, C...	OMIM:142945
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma, Pilomatrixoma	ORPHA:247806
Cerebrotendinous Xanthomatosis	Delayed somatosensory central conduction time, Osteoporosis, Optic disc pallor	OMIM:213700
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis...	ORPHA:379
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morphology, Cerebellar vermis hypop...	ORPHA:370997
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Kenny-Caffey Syndrome, Type 2	Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Papilledem...	OMIM:127000
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation	ORPHA:163956
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Myelomeningocele, Hydrocephal...	OMIM:306955
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Microphthalmia, Ectropion, Conjunctivitis	OMIM:278730
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Acrodermatitis Enteropathica	Furrowed tongue, Abnormal eyebrow morphology, Abnormal eyelid morphology, Abnormality of the tong...	ORPHA:37
Choanal Atresia	Polydactyly	ORPHA:137914
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Panniculitis, Splenomegaly, Myositis	OMIM:619183
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Sparse hair	OMIM:618253
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume...	ORPHA:733
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Norrie Disease	Abnormal helix morphology, Hypoplasia of the iris, Narrow nasal bridge, Malar flattening, Sensori...	ORPHA:649
Thalidomide Embryopathy	Insulin resistance, Chronic rhinitis	ORPHA:3312
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Sting-Associated Vasculopathy, Infantile-Onset	Joint stiffness, Nasal septum perforation, Nail dystrophy, Nailfold capillary tortuosity, Sparse ...	OMIM:615934
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Esophagitis, Fasting hypoglycemia	ORPHA:96182
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis, Facial palsy, Facial diplegia, Shoulder girdle muscle weakness	ORPHA:254892
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Splenomega...	OMIM:222700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Proximal muscle weakness in upper limbs, Distal upper limb muscle ...	ORPHA:466768
17Q11 Microdeletion Syndrome	Osteopenia, Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L...	ORPHA:97685
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Reduced erythroc...	OMIM:263700
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233710
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Hand muscle atrophy, Ankle clonus, Ptosis, Tongue atrophy	OMIM:211530
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Prolactinoma	Osteoporosis, Osteopenia	ORPHA:2965
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233690
Phace Association	Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphthalmia, Optic nerve hypopl...	OMIM:606519
Spinocerebellar Ataxia 36	Tongue fasciculations, Ptosis, Tongue atrophy	OMIM:614153
Revesz Syndrome	Ridged fingernail, Oral leukoplakia, Fine hair, Intrauterine growth retardation, Nail dystrophy, ...	OMIM:268130
Myelofibrosis	Hepatomegaly, Splenomegaly	OMIM:254450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Osteoporosis, Flexion contracture, Scoliosis, Hyperlordosis	ORPHA:365
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Rickets, Osteomalacia	ORPHA:309031
Histiocytoid Cardiomyopathy	Optic atrophy, Congenital aphakia, Polycystic ovaries, Hydrocephalus, Microphthalmia, Cleft palate	ORPHA:137675
Systemic Mastocytosis With Associated Hematologic Neoplasm	Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Ptosis, Tongue atrophy	ORPHA:276198
Galloway-Mowat Syndrome 4	Protruding ear, Plagiocephaly, Short stature, Primary microcephaly	OMIM:617730
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contractu...	OMIM:614594
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Abnormal rib morphology, Broad ribs, Short ribs, Postaxial hand poly...	ORPHA:2519
Humeroradial Synostosis	Wide nasal bridge, Humeroradial synostosis, Brachycephaly, Small earlobe, Microtia	OMIM:236400
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar...	OMIM:604536
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ...	ORPHA:79318
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Sparse body hair, Oligodontia, Sparse axillary hair, Absent eyebrow, Short eye...	OMIM:608615
Isolated Exencephaly	Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo...	ORPHA:563612
Currarino Syndrome	Lower limb asymmetry, Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma	ORPHA:1552
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Primary hypercortisolism	ORPHA:100079
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sensorineural hearing impairment, Short stature, Sparse hair, Fragile nails	OMIM:242150
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperglycemia, Hyperammonemia, Microvesicular hepatic steatosis, Left ventricular h...	OMIM:220111
Slc39A8-Cdg	Elbow flexion contracture, Cutaneous syndactyly of toes, Limb undergrowth, Knee flexion contracture	ORPHA:468699
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal form of the vertebral bodies, Fractures of the long bones, Abnormal thoracic ...	ORPHA:464329
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly, Supernumerary nipple	ORPHA:1173
Phace Syndrome	Retinal vascular malformation, Ptosis, Microphthalmia, Abnormality of the orbital region, Lens co...	ORPHA:42775
Nijmegen Breakage Syndrome	Anal stenosis, Upslanted palpebral fissure, Deep philtrum, Abnormal eyelid morphology, Anal atres...	ORPHA:647
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d...	ORPHA:1010
Agel Amyloidosis	Sparse hair, Tongue atrophy, Nail dystrophy, Hearing impairment	ORPHA:85448
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Short stature, Sparse hair	OMIM:268020
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Recurrent pneumonia, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Cushing Disease	Osteoporosis, Vertebral compression fracture, Optic nerve compression	ORPHA:96253
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascites, Osteomyel...	OMIM:306400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Short toe, Abnormal brainstem morphology, Abnormality of the cervical ...	ORPHA:464311
Childhood Absence Epilepsy	Jerky head movements	ORPHA:64280
Williams-Beuren Syndrome	Osteopenia, Umbilical hernia, Clinodactyly of the 5th finger, Joint hypermobility, Kyphoscoliosis...	OMIM:194050
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Renal cyst, Mitten deformity, Osteop...	ORPHA:79404
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatic steatosis, Hyp...	OMIM:188400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint hypermobility, Optic disc pallor, Hip dysplasia, Osteoporosis, Scoliosis	ORPHA:438213
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
Aicardi-Goutières Syndrome	Low-set ears, Plagiocephaly, Multiple joint contractures, Microcephaly, Convex nasal ridge, Arthr...	ORPHA:51
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Webbed neck, Highly arched eyebrow, Low-set, posteriorly rotated ears, Enlarged interphalangeal j...	ORPHA:2988
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Plagiocephaly, Hearing impairment, Postnatal growth retardation, Microcep...	OMIM:613355
Dihydropyrimidinase Deficiency	Microcephaly, Plagiocephaly, Growth delay	OMIM:222748
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irregular vertebral endplates, S...	ORPHA:99646
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Xerostomia, Tongue atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Palmar hyperkeratosis, ...	OMIM:615726
Hepatoerythropoietic Porphyria	Osteoporosis, Osteopenia, Osteolysis	ORPHA:95159
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Enlarged polycystic ovaries, Osteoporosis, Reduced bone mineral density, Polycystic ovaries	ORPHA:90796
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar hypoplasia, Abnormal brainstem morphology, Cerebellar atrophy	OMIM:301310
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Microcephaly, Psoriasiform dermatitis, Growth delay	OMIM:615508
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Renal cyst	ORPHA:99880
Parathyroid Carcinoma	Osteoporosis, Renal cyst	ORPHA:143
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Tsh-Secreting Pituitary Adenoma	Osteoporosis, Osteopenia	ORPHA:91347
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Mitten deformity, Osteoporosis, Flexion contracture	ORPHA:79408
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue	OMIM:614204
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Giant Cell Arteritis	Optic atrophy, Glossitis, Ptosis	ORPHA:397
Dyskeratosis Congenita, X-Linked	Osteoporosis, Optic atrophy	OMIM:305000
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ...	ORPHA:51608
Cystic Fibrosis	Osteoporosis, Osteopenia	ORPHA:586
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Generalized Pustular Psoriasis	Cheilitis, Geographic tongue, Pedal edema	ORPHA:247353
Dextrocardia	Congenital hip dislocation, Hydrocephalus, Abnormal rib morphology	ORPHA:1666
Currarino Syndrome	Absence of the sacrum, Bifid sacrum, Anterior sacral meningocele, Presacral teratoma, Tethered co...	OMIM:176450
Leprosy	Epistaxis, Alopecia, Abnormal facial skeleton morphology, Sparse body hair, Loss of eyelashes, Ab...	ORPHA:548
Carney Complex	Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, Abnormal morphology of female i...	ORPHA:1359
Naxos Disease	Sparse eyebrow, Subungual hyperkeratosis, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha...	OMIM:601214
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Abnormal brainstem morphology	ORPHA:93256
Cushing Syndrome Due To Ectopic Acth Secretion	Osteoporosis, Vertebral compression fracture	ORPHA:99889
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Ganglioneuromatosis, Cervical neoplasm, Aganglionic megacolon, Thick ...	ORPHA:653
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Hawkinsinuria	Microcephaly, Sparse hair	OMIM:140350
Holt-Oram Syndrome	Elbow dislocation, Long philtrum, Cleft soft palate, Micrognathia, Limited elbow extension, Thora...	OMIM:142900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tortuosity, Peripapill...	OMIM:175780
Congenital Fibrosis Of Extraocular Muscles	Congenital sensorineural hearing impairment, Plagiocephaly, Optic nerve hypoplasia	ORPHA:45358
Plague	Inflammation of the large intestine, Chapped lip, Ileitis, Conjunctival hyperemia, Enterocolitis,...	ORPHA:707
Heterotaxy, Visceral, 5, Autosomal	Cerebellar hypoplasia, Absence of the sacrum, Cerebellar atrophy	OMIM:270100
Common Variable Immunodeficiency	Brachycephaly, Chronic otitis media, Otitis media	ORPHA:1572

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lrp6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lrp6.

No publications found that use IMPC mice or data for Lrp6.

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MGI Allele	Allele Type	Produced
Lrp6^{tm40393(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lrp6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lrp6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lrp6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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